Axillary Hair Research Articles

Timing of puberty in relation to semen characteristics, testicular volume, and reproductive hormones: a cohort study

To investigate if timing of puberty is associated with semen characteristics, testicular volume, and reproductive hormone levels. Cohort study. The Danish National Birth Cohort (DNBC) and its sub-cohort, the Fetal Programming of Semen Quality (FEPOS) cohort of 1,058 young men. Self-reported information on timing (younger, same age, older than peers) of the pubertal markers: voice break (primary exposure), pubic hair growth, regular shaving, and axillary hair growth. We estimated the relative differences with 95% confidence intervals (CI) for semen characteristics (semen volume, sperm concentration, total sperm count, sperm motility, percentage of morphologically normal spermatozoa), testicular volume, and reproductive hormones (follicle stimulating hormone [FSH], luteinizing hormone [LH], sex hormone-binding globulin [SHBG], testosterone, estradiol, free androgen index [FAI]) obtained at a median age of 19.2 years according to timing of pubertal development. Compared to men reporting voice break 'same age as peers', men reporting voice break 'older than peers' tended to have lower total sperm count (-12% [-25%, 4%]) and lower percent morphologically normal spermatozoa (-10% [-20%, 2%]), whereas men reporting voice break 'younger than peers' tended to have lower proportion of non-progressive and immotile spermatozoa (-6% [-13%, 1%]) and larger testicular volume (7% [1%, 13%]). The pattern was less consistent for the other pubertal markers.For reproductive hormones, voice break 'older than peers' tended to have higher FSH (24% [-1%, 55%]), higher SHBG (7% [0%, 15%]), lower estradiol (-14% [-23%, -5%]) and lower FAI (-8% [-14%, -1%]), whereas voice break 'younger than peers' tended to have higher LH (4% [-2%, 11%]), higher testosterone (5% [0%, 11%]), higher estradiol (17% [6%, 29%]) and higher FAI (4% [-2%, 11%]). When the categorical pubertal markers were analyzed as a linear term to assess for dose-dependency, older age at pubertal development were associated with higher FSH, higher SHBG, lower testosterone, lower estradiol and lower FAI for most pubertal markers. These results lend weak support to the hypothesis that older age at pubertal development is associated with markers of reduced male fecundity, especially reproductive hormone levels, although associations with semen characteristics and testicular volume were statistically insignificant.

Siblings with 4H leukodystrophy – A rare cause of hypomyelination

A 35-year-old man presented with slowly progressive ataxia since childhood, failure of development of secondary sexual characteristics, primary infertility, delayed dentition, and moderate sensorineural hearing loss on both sides. On physical examination, there were unerupted first molar teeth on both sides, lack of axillary and facial hair and a small-sized penis. He underwent a magnetic resonance imaging (MRI) examination of the brain which showed diffuse hypomyelination with relative sparing of bilateral posterior limbs of the internal capsule, the ventrolateral nucleus of the thalamus, and optic radiations, along with a hypoplastic anterior pituitary gland. Hence, 4H leukodystrophy was suggested radiologically which made us curious to ask for family history which revealed similar symptoms (absence of secondary sexual characters) in his younger male sibling. MRI brain screening was also performed for the sibling, which showed diffuse cerebral hypomyelination.

Maternal intake of folate and folic acid during pregnancy and pubertal timing in girls and boys: A population-based cohort study.

Folate is essential for normal foetal development as it plays an important role for gene expression during different periods of foetal development. Thus, prenatal exposure to folate may have a programming effect on pubertal timing. To study the association between maternal intake of folate during pregnancy and pubertal timing in girls and boys. We studied 6585 girls and 6326 boys from a Danish population-based Puberty Cohort, 2000-2021. Information on maternal intake of folate from diet and folic acid from supplements was obtained from a food-frequency questionnaire in mid-pregnancy, and total folate was calculated as dietary folate equivalents. Information on age at menarche in girls, age at first ejaculation and voice break in boys, and Tanner stages, acne and axillary hair in both girls and boys was obtained every 6 months throughout puberty. We estimated mean monthly differences according to exposure groups for each pubertal milestone in addition to a combined estimate for the average age at attaining all pubertal milestones using multivariable interval-censored regression models. Total folate was analysed in quintiles, continuous and as restricted cubic splines. Maternal intake of total folate in mid-pregnancy was not associated with pubertal timing in girls (combined estimate for overall pubertal timing per standard deviation (SD 325 μg/day) decrease in maternal intake of total folate: -0.14 months (95% confidence interval [CI] -0.51, 0.22)). Boys had slightly later overall pubertal timing per standard deviation (SD 325 μg/day) decrease in maternal intake of total folate (combined estimate: 0.40 months, 95% CI 0.01, 0.72). Spline plots supported these findings. Prenatal exposure to low maternal intake of total folate in mid-pregnancy was not associated with pubertal timing in girls but associated with slightly later pubertal timing in boys. This minor delay is likely not of clinical importance.

Abstract #1407524: Endocrinopathies in Rubinstein Taybi Syndrome (RTS)

Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder with a constellation of physical characteristic features, including a high-arched palate, broad thumbs, and microcephaly. It is associated with many endocrinopathies that need to be identified and treated. We present a case of RTS with associated hypogonadism, obesity, and type 2 diabetes Mellitus (DM). The patient is a 47 y/o man with a history of Rubinstein-Taybi syndrome, diagnosed at 3, presented to our clinic at age 33 for continued management of hypogonadism. He had been treated with IM testosterone injection but was not compliant. His past medical history was significant for a seizure disorder, recurrent respiratory infection, and undescended testes for which he had surgery at age 5 and 11. Family history was positive for type 2 DM. He denied smoking and illicit drug use; however, he reported occasional alcohol use. Upon initial evaluation, VS: BP 109/63, HR 71, Ht 67.1 inches, Wt 265 lbs with a BMI 41.5. A physical exam showed an obese man with facial dysmorphism of microcephaly, up-slanted palpebral fissure, overcrowded teeth, broad bilateral thumbs, fifth fingers, and first toes. A wide space between the 1st and 2nd toe was noted, with sparse pubic and axillary hair, a small testis on the right, and an empty scrotum on the left. Labs were pertinent for total testosterone 134 ng/dl (264-916 ng/dl), FSH < 0.3 mIU/ml (1.6-8.0 mIU/mL), LH < 0.1 mIU/ml (1.5-9.3 mIU/mL), and WBCs 17.3 x10E3/uL. Initial HbA1c 6.3%. Scrotal US revealed an empty left scrotum and hypovascular small right testis. Persistent leukocytosis was noted, ranging between 17.3-12.4 x10E3/uL, for which he was sent to hematology; subsequent evaluation was unremarkable. Over the years, he progressed to type 2 DM, for which he is receiving glucagon-like peptide-1 receptor agonist (GLP-1) and metformin. With the addition of the GLP-1, his BMI decreased from 41 to 31, and his most recent HbA1c was 6.2%. For hypogonadism, he continues on IM testosterone injections. RTS is a rare congenital condition linked to abnormalities in the CREBBP or EP300 genes as a result of microdeletion of chromosomes 16. 90% of cases survive to adulthood. Common endocrine conditions associated with RTS are congenital hypothyroidism, thyroid hypoplasia, growth hormone deficiency, and pituitary hypoplasia. Obesity is common, especially in adulthood; however, DM was not reported in the literature. Cryptorchidism is noted in over 70% of the cases. Of note, leukemia and lymphoma have also been linked to this syndrome; however, our patient's workup so far has been negative. The medical care for RTS patients is not standardized due to its incredibly rare nature. Our case is unique as there are no reported RTS patients with diabetes. These patients are at increased risk of obesity which will increase the risk of type 2 DM.

Herlyn-Werner-Wunderlich (HWW) syndrome: a case report

Herlyn-Werner-Wunderlich (HWW) syndrome OHVIRA syndrome (Obstructed HemiVagina Ipsilateral Renal Agenesis) is rare type of Mullerian duct anomaly, with uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis. Usually presenting in post-pubertal adolescent girls presenting as pain abdomen or pelvic masses on the side of the obstructed Hemivagina. Here we represent a case report of a 14-year-old girl who presented to our outpatient department complaining lower abdominal pain for 2 months with previous normal menstrual cycles. On General Physical examination well-developed breasts and normal axillary and pubic hair distribution were noted. The Baseline laboratory analysis and hormonal profile were reported normal. Magnetic Resonance Imaging (MRI) provided a fruitful help in correct diagnosis of this rare anomaly. The treatment modality being the surgery to relieve obstruction and its associated complications.

A Novel Method of Intraoperative Calculation in Follicular Unit Transplantation: 'The Sequential Strip and FUE Method'.

Hair loss, in particular androgenetic alopecia, has troubled humans since the dawn of history. Treatment options for hair restoration have undergone massive transformation from punch grafting to follicular unit transplantation. Current surgical treatment options in hair restoration fall broadly under two categories, follicular unit transplantation most commonly known as strip method and follicular unit extraction (FUE). The strip method though widely used initiallyis not so common now due to its fair share of disadvantages ranging from linear donor scar, scar widening to strip overharvesting and wastage of grafts. Follicular unit excision (FUE) was introduced as an alternative method for extraction of grafts to combat the donor linear scar produced by strip method but the disadvantages of FUE include the number of grafts harvested in a single session, moth eaten appearance of donor area caused by over extraction of graftsand harvesting from outside the safe zone. Newer developments like extraction of axillary hair, body hair and pubic hair have been sought to overcome the limitations of number of grafts harvested in a single session of FUE. With more patients now affected by alopecia in their early 20s, there is an ever-increasing demand from the patients for the youthful hairline and hence the focus has shifted towards mega and giga sessions of hair transplantation which pose danger of over extraction of grafts leading to depletion of available donor sites. This article elaborates the combined sequential strip and FUE method along with an intraoperative calculation model to overcome the limitations of over extraction and wastage of grafts. (1) Combination of techniques Strip method with FUE. (2) An intraoperative calculation model that aids in limiting over extraction and wastage of grafts. (3) It is a real time model which can be applied in practice with ease.Level of Evidence IV This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Secondary amenorrhoea with absent axillary hair

Secondary amenorrhoea with absent axillary hair

Clinical and Genetic Analyses of Two Unrelated 46, XX Girls with Combined 17α-Hydroxylase/17,20-lyase Deficiency from China.

The cytochrome P450 17α-hydroxylase (P450c17) enzyme, encoded by Cytochrome P450 Family 17 Subfamily A Member 1 (CYP17A1) gene, catalyzes both the 17a-hydroxylation and 17,20-lyase reactions required for the production of cortisol and sex steroids. 17α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare autosomal recessive disease caused by homozygous or compound heterozygous mutations in CYP17A1 gene. 17OHD can be classified into complete form and partial form based on the phenotypes resulting from P450c17 enzyme defects of different severities. Here we report two unrelated girls diagnosed with 17OHD at the age of 15 and 16 respectively. Both patients presented with primary amenorrhea, infantile female external genitalia and absent axillary or pubic hair. Hypergonadotropic hypogonadism was detected in both patients. Besides, Case 1 showed undeveloped breast, primary nocturnal enuresis, hypertension, hypokalemia and reduced 17α-hydroxyprogesterone and cortisol levels, while Case 2 had growth spurt, spontaneous breast development, elevated corticosterone and decreased aldosterone. The chromosome karyotype for both patients was 46, XX. Clinical exome sequencing was used to detect the underlying genetic defect in the patients, and the potential pathogenic mutations were validated by Sanger sequencing of the patients and their parents. The homozygous p.S106P mutation of CYP17A1 gene detected in Case 1 has been reported previously. Although the p.R347C and p.R362H mutations have been reported separately before, their compound heterozygote was firstly identified in Case 2. Based on the clinical, laboratory and genetic findings, Case 1 and Case 2 were definitely diagnosed as complete and partial form of 17OHD respectively. Both patients received estrogen and glucocorticoid replacement therapy. Their uterus and breasts developed gradually, and first menstruation occurred. Hypertension, hypokalemia and nocturnal enuresis in Case 1 were relieved. In conclusion, we described a case of complete 17OHD accompanied by nocturnal enuresis for the first time. Moreover, we identified a new compound heterozygote (p.R347C and p.R362H) of CYP17A1 gene in the case with partial 17OHD.

The influence of the trajectory of obesity indicators on the age of pubertal onset and pubertal tempo in girls: A longitudinal study in Chongqing, China.

This study aims to explore the influence of the trajectory of obesity indicators on the onset age of different pubertal development characteristics and pubertal tempo among girls. Our longitudinal cohort study recruited 734 girls at baseline in May 2014 from a district of Chongqing and followed them at 6-month intervals. Data were available from baseline to the 14th follow-up with a full record of height, weight, waist circumference (WC), breast development, pubic hair, and armpit hair development, as well as the age of menarche. The Group-Based Trajectory Model (GBTM) was fitted for the optimum trajectory of the body mass index (BMI), WC, and waist-to-height ratio (WHtR) of girls before the pubertal onset and menarche. The ANOVA and multiple linear regression model were conducted to analyze the influence of the trajectory of obesity indicators on the onset age of different pubertal development characteristics and pubertal tempo in girls. Compared with the healthy (gradual BMI increase) group before pubertal onset, the overweight (persistent BMI increase) group has an earlier onset age of breast development (B: -0.331, 95%CI: -0.515, -0.147) and pubic hair development (B: -0.341, 95%CI: -0.546, -0.136). The B2-B5 development time was shorter in girls in the overweight (persistent BMI increase) group (B: -0.568, 95%CI: -0.831, -0.305) and the obese (rapid BMI increase) group (B: -0.328, 95%CI: -0.524, -0.132). The age of menarche was earlier, and the B2-B5 development time was shorter in girls in the overweight (persistent BMI increase) group than in girls in the healthy (gradual BMI increase) group before menarche (B: -0.276, 95%CI: -0.406, -0.146; B: -0.263, 95%CI: -0.403, -0.123). Girls with high WC (rapid WC increase) before menarche had an earlier age of menarche than normal WC (gradual WC increase) (B: -0.154, 95%CI: -0.301, -0.006), and the B2-B5 development time was shorter in girls in the overweight (gradual WHtR increase) group than in girls in the healthy (persistent WHtR increase) (B: -0.278, 95%CI: -0.529, -0.027) group. Among girls, overweight and obesity (BMI scale) before pubertal onset can not only influence pubertal onset age but also accelerate B2-B5 pubertal tempo. Overweight (BMI scale) and high WC before menarche also have an impact on the age of menarche. Overweight (WHtR scale) before menarche is significantly associated with B2-B5 pubertal tempo.

Fitrah Penampilan Diri (Studi Mengenai Anjuran Mencabut Bulu Ketiak)

This research discusses the nature of self-appearance or (personal grooming) which contains suggestions, one of which is to remove armpit hair. This research is included in a literature review, the object of this study is hadiths related to personal grooming, the approach used is maqasid al-shari'ah al-syatibi. The results of the study reveal that self-appearance is part of aesthetics and in Islam it is included in adab or ethics as part of the sunnahs of human nature. The benefits of shaving the armpit hair are cleanliness and health, so removing it is a sunnah and is liked.

A Rare association of Mauriac syndrome and Van-Wyk Grumbach syndrome found in a young Saudi girl with poorly controlled type 1 Diabetes and Hypothyroidism: A Case Report and Brief literature review

Type 1 diabetes mellitus (T1DM) is an autoimmune disease characterized by insufficient insulin production of the pancreatic beta-cells. Patients with T1DM will have a higher risk of other autoimmune disorders like celiac and thyroid diseases. Hypothyroidism is the failure of the thyroid gland to secrete an adequate amount of thyroxine, which is required for physical growth, brain development, and cellular metabolism. Most studies reported that children with T1DM have a higher incidence of hypothyroidism than normal children, with 9.6% having hypothyroidism and 19% having positive anti-TPO antibodies. Hypothyroidism will aggravate the condition in a child with T1DM and vice versa. Uncontrolled diabetes for a long time might increase insulin resistance due to complete depression of the hypothalamus-pituitary thyroid axis. A rare complication of poorly controlled T1DM is Mauriac syndrome, characterized by elevated liver enzymes, hyperlipidemia, cushingoid features, growth retardation, and hepatomegaly due to glycogenic hepatopathy. Van Wyk–Grumbach syndrome is also a rare complication of long-standing, untreated hypothyroidism, manifested by breast development, multicystic ovary, uterine bleeding associated with lack of pubic and axillary hair growth, and delayed bone age. Here, we report a case with two rare complications of Mauriac syndrome and Van Wyk–Grumbach syndrome in a child with hypothyroidism and poorly controlled T1DM.

Axillary hairs in diverse moss lineages

New observations and an overview of the axillary hair structure in the groups of mosses sister to peristomate ones are provided. Three moss lineages, Takakiopsida, Sphagnopsida, and Andreaeobryopsida are characterized by mucilage release through the apical pore or otherwise apical structures. Axillary hairs of Andreaea however, differ from these lineages and are similar to all other mosses, where mucilage exudes through small temporary breakings along the entire cell wall of its upper cells. Fine structure of axillary hairs is illustrated for Sphagnum, Takakia, Andreaeobryum, and partly for Andreaea and Oedipodium, and general characteristics are given for most orders. A unique arrangement of axillary hairs is found in Sphagnum, where they occasionally appear not only in the leaf axils but also along the leaf base abaxially. Another rare feature of Sphagnum is that its axillary hairs are penetrable for fungi through the apical pore, which was previously known in mosses only for Takakia. A highly specialized structure regulating mucilage release in Takakia is described. Actin filaments and especially tubulin microtubules were found to be outstandingly abundant in axillary hairs of Physcomitrium but not in paraphyses, as seen in its GFP-labelled plants, and this feature may be common in other mosses.

Assessment of puberty in children with chronic kidney disease and end-stage renal disease undergoing hemodialysis

BackgroundGrowth and pubertal retardation are one of the most visible comorbidities in children with chronic kidney disease (CKD) and end-stage renal disease (ESRD) under regular hemodialysis. This study evaluated pubertal development in children and adolescents with CKD and ESRD on regular hemodialysis.MethodsThis study was carried out on 40 children with CKD and 20 with ESRD under regular hemodialysis. All patients and controls were subjected to a thorough clinical examination pubertal assessment.ResultsThere was a statistically significant difference in the breast or testicular stage of the three groups (P < 0.001). Most cases of ESRD were either stages 1 or 2 (50.0%, 45.0%, respectively). The CKD cases were also stages 1 and 2 (35.7%, 52.4%, respectively). The controls were in stages 3 and 4 (44.3 and 29.5%, respectively), which showed normal development for age. There was a statistically significant difference in the pubic hair stage and axillary hair stage of the three groups (P < 0.001). Most cases of ESRD were either stages 1 or 2 (55.0%, 40.0%, respectively). The CKD cases were also between stages 1 and 2 (38.1%, 52.4%, respectively), with a higher level in stage 2. Of the control group, 39.3% was stage 3, and 36.1% was stage 4, with a higher level in stage 3 proving normal development for age.ConclusionPubertal growth and sexual maturation in children with CKD and ESRD are markedly affected. It is necessary to regularly follow up with children with ESRD for early detection of endocrinal complications.

Isolated growth hormone deficiency and amenorrhea – Case report

Growth hormone (GH) deficiency is the most common hypopituitarism disorder. We highlight the challenges to its diagnosis and management in the setting of a developing country. A 14-year-old came with a chief complaint of inability to menstruate. Menarche was at 12-years old, lasted 7 days, soaking 2 pads/day which discontinued shortly after. Thelarche was at 12-years-old and her breast is at Tanner stage 3. Her axillary and pubic hair are at Tanner stage 1. Height was 120 cm, weight 34.8 kg, height for age z-score<-3. Her lab results were normal for estradiol, luteinizing hormone (LH), follicle-stimulating hormone (FSH) and prolactin. Bone age was suitable for age. Magnetic resonance imaging revealed pituitary gland hypoplasia (5.3 mm). A hormonal panel 3 years prior showed abnormally low GH level but normal cortisol and thyroid hormone levels. She was diagnosed with isolated growth hormone deficiency (IGHD) with delayed puberty. She was treated with medroxyprogesterone tablets once daily, after which her menstruation restarted. However, due to her economic background, she declined genetic tests, discontinued her medication and amenorrhea recurred. Amenorrhea present after a brief menarche should alert gynaecologists of a possible multi-hormone disorder with an underlying structural abnormality. IGHD may be due to a structural abnormality, such as pituitary gland hypoplasia. Unfortunately, economic reasons prevented the patient from receiving optimal treatment. IGHD rarely presents with a gynaecological complaint. Hormonal and genetic tests along with imaging should be undertaken. Growth hormone supplementation is the treatment of choice.

Comparative effectiveness of ice packs versus topical lidocaine-prilocaine mixture for pain control in laser hair removal of the axilla: A rater-blinded randomized controlled trial

Laser hair removal is associated with moderate acute pain. To compare effectiveness of ice pack to topical lidocaine-prilocaine for pain reduction during axillary laser hair removal. Participants were randomly assigned to receive topical anesthetic to one axilla and ice packs to the other before each of three, monthly 810-nm diode laser sessions. The primary endpoint was participant-reported pain on the visual analog scale (VAS) immediately following and 5 minutes after laser. Post-treatment erythema, overall edema, and perifollicular edema were assessed by two blinded photoraters. Skin temperatures, patient preferences, and adverse events were recorded. Eighty-eight of 90 (98%) planned laser treatments were delivered, and randomized. Participants reported higher VAS scores immediately after laser with lidocaine-prilocaine compared to ice (p=0.03). Five minutes after, participants reported higher VAS scores with ice (p=0.03). After 53 of the 88 treatments (60.2%), participants reported preferring ice (p=0.055). No serious adverse events were reported. All participants were Caucasian or Asian with Fitzpatrick skin type I-III and coarse dark axillary hair, which may limit generalizability. While pain control with ice and topical anesthesia is associated with time after treatment, the two modalities do not differ in terms of degree of pain reduction associated with axillary laser hair removal.

ODP401 A new FGFR1 mutation causing Idiopathic Hypogonadotropic Hypogonadism and Polydactyly

Abstract Introduction Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a heterogeneous condition with unknown genetic basis in approximately 30% of patients. We describe a case with normosmic IHH and an unreported FGFR1 mutation. Case Report A 23-year-old hispanic man, with a history of polydactyly presented to our clinic for evaluation of delayed puberty. He had no facial hair and minimal pubic and axillary hair. He reported fatigue, low libido and scant ejaculation. He denied anosmia, eating disorders, learning disability, urological malformations, obesity, galactorrhea, testicular trauma, mumps, or use of androgenic steroids. Family history was significant for polydactyly in his mother. Physical exam findings showed normal vitals, height 185 cm, BMI 24 kg/m2, eunuchoid body habitus, bilateral gynecomastia, no facial hair, scant axillary and pubic hair, prepubertal 2 ml testicles within the scrotum and a micro-penis. Serum total testosterone was 7 ng/dl (250-1100 ng/dl), free testosterone 0.9 pg/ml (9.3-26.5 pg/ml), FSH 2.2 mIU/ml (1.6-8. 0 mIU/ml), LH 0.8 mIU/ml (1.5-9.3 mIU/ml), Prolactin 4.1 ng/ml (4-15.2 ng/ml), TSH 1.68 mIU/ml (0.4-5.5 mIU/ml), free t4 1.2 ng/dl (0.8-1.7 ng/dl), growth hormone 0.3 ng/ml (0. 0-10 ng/ml), IGF-1 175 ng/ml (155-432 ng/ml), ACTH 14.6 pg/ml (7.2-63 pg/ml), cortisol (not am) 3. 0 ug/dl (6.2-19.4 ug/dl). Pituitary MRI revealed no focal sellar/suprasellar lesions with normal enhancement of the pituitary gland . DXA scan showed a low bone density for his age with Z-scores below -2. 0 in all regions. Chromosome analysis revealed a normal male 46, XY karyotype. Genetic testing of both patient and mother, using Invitae test kit, revealed an heterozygous mutation in FGFR1 gene, exon 9, variant c.1231C&amp;gt;A (p. Gln411Lys), not described in medical literature. A diagnosis of normosmic idiopathic hypogonadotropic hypogonadism (nIHH) was made. Testosterone cypionate IM 100 mg once weekly was initiated and after 6 months he experienced improvement in energy, libido, muscle mass, facial and body hair, and virilization of his voice. Conclusions The heterogeneity in phenotypic presentation of IHH makes its diagnosis a challenge. Furthermore, the genetic basis for these multiple phenotypes are still not fully described. We report a new FGFR1 mutation causing hypogonadism. Reference: Ferreira Gontijo, L., Latronico, A. Approach to the Patient With Hypogonadotropic Hypogonadism. JES, Vol. 98, Issue 5, 1 May 2013, P. 1781–1788. Presentation: No date and time listed

ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic

Abstract Background The NR5A1 gene encodes steroidogenic factor-1 (SF1), a key transcription factor involved in adrenal and gonadal development. We present a 12-year old boy with a novel, dominant, heterozygous, and probably pathogenic variant of this gene (c.102+1G&amp;gt;C) resulting in incomplete masculinization [46, XY disorder of sex development (DSD)]. Clinical case: This 12-year-old boy, who had immigrated from the Dominican Republic to the United States, was referred at 8 years of age with a diagnosis of congenital adrenal hyperplasia (CAH). He received hCG injections as a neonate and had been prescribed hydrocortisone 7 mg/m 2 /day and fludrocortisone 0.1 mg/day orally for CAH, although compliance was poor. After migrating to the United States, his supply of medications depleted, and he was taken to a local emergency room with fatigue and abdominal pain. Vital signs and electrolyte levels were normal. There was no history of adrenal crisis, testes were not palpable, and inguinal testicles measuring 2.8×1.1 cm on the right and 2.2×1 cm on the left were reported on MRI. When he presented to the pediatric endocrinology clinic, his mother denied history of consanguinity, PCOS, or use of hormones during pregnancy. She reported a history of two spontaneous miscarriages with father of patient and a younger healthy son from another partner. Physical exam showed ambiguous genitalia with underdeveloped scrotum, mild hyperpigmentation, bilateral non-palpable testicles within scrotum, severe penoscrotal hypospadias, stretched penile length (SPL) of 2cm×1.5 cm, and chordee. He had axillary hair and a Tanner stage 2 for pubic hair. A high-dose ACTH stimulation study (250 mcg IV cosyntropin) showed a peak cortisol level at 19.6 μg/dL, peak 17-hydroxyprogesterone of 100 ng/dL, and baseline and peak pregnenolone levels of 6 ng/dL and 43 ng/dL, respectively, with low to normal values of other precursors ruling out CAH. Gonadotropin levels were prepubertal (LH &amp;lt; 0.3 mIU/mL, FSH 2.9 mIU/mL), testosterone &amp;lt;4 ng/dL, and dihydrotestosterone 0.73 ng/dL. Chromosomal studies confirmed 46, XY. With a clinical diagnosis of 46,XY DSD (undervirilized male) and male gender identity, a 2-stage orchiopexy was completed. After a six-month course of monthly 50 mg cypionate testosterone, SPL improved to 4 cm and pubic hair progressed to Tanner stage 3. Surgical repair of penoscrotal hypospadias and chordee were then completed. A 46, XY DSD/complete gonadal dysgenesis DNA panel sequencing identified a novel, dominant, heterozygous, likely pathogenic variant of the NR5A1 gene [c.102+1G&amp;gt;C]. This is a canonical splice donor site of intron 2. Conclusion A novel sequence change in the NR5A1 gene causing a severe phenotype of 46,XY undervirilized male is presented here in a boy originally misdiagnosed with CAH. This case emphasizes the need for complete evaluation with molecular genetic screening for those patients with 46,XY DSDs. Presentation: No date and time listed

PMON319 A Pure Androgen Secreting Adrenal - Cortical Tumor in a 13 Year Old Female

Abstract Background Adrenal cortical adenomas are exceedingly rare representing 0.2% of pediatric malignancies and often present with signs of Cushing syndrome, virilization and mixed elevated hormones.[1] We present a rare case of a virilizing androgen only secreting adrenal cortical adenoma with resolution after surgical removal. Clinical Case A 13-year-old female was referred to endocrine clinic for 1 year history of deep masculine voice, hirsutism and elevated DHEA-S levels. She also reported facial hair requiring removal every 3 to 4 days, back hair, acne, and dull aching back pain. Pubertal changes began at age 9 with breast development and menarche at age 11 followed by amenorrhea. On physical exam, she had a significantly deep masculine voice, axillary hair, female genitalia with prominent clitoris, Tanner Stage IV pubic hair and Stage III breast development. Blood pressure was within normal limits and weight was historically consistent in the 90th percentile. Initial labs were significant for elevated 17-Hydroxypregnenolone 353 ng/dL (ref: 44-235), Androstenedione LCMS 903 ng/dL (ref: 50-170), Testosterone 100 ng/dL (ref: 15-35), DHEA 5460 ng/dL (ref: &amp;lt;202) and DHEA-S &amp;gt;1000 ug/dL (ref: 67.8–328.6). LH, FSH, Estradiol, Cortisol LCMS, and Chromogranin A were within normal limits for her sex and age. Further work up ruled out pheochromocytoma, paraganglioma, Cushing's syndrome and congenital adrenal hyperplasia. Magnetic resonance imaging revealed a well-circumscribed 5.5×5.8×6.4 cm cystic and solid left adrenal mass and displacement of the left kidney. She was referred to endocrine oncology and surgery specialists. Genetic testing showed absence of TP53 involvement. Patient underwent open left adrenalectomy, and remained hospitalized for 3 days in recovery. The surgical pathology identified an adrenal cortical adenoma Stage II (pT2, pN0, cM0) measuring 8.7×6.0×3.3cm with slight increase of ki67 index at 3.7% (average 8044 nuclei counted) and hot spot with 4.6% (1266 nuclei counted). Follow up revealed resumption of regular periods, improvement in acne and male-pattern hair growth, and voice becoming less deep beginning 3 months post-operatively. DHEA-S returned to normal ranges at 220 ug/dL (ref: 67.8–328.6). Patient did well post-operatively except for occasional sharp back pain. Discussion Rare amongst adrenal tumors are isolated androgen-secreting sub types. To our knowledge, this is one of the first documented cases of a pure androgen secreting adrenal cortical tumor without symptoms of Cushing's syndrome in the pediatric population.

Widespread and eruptive comedonal lesions with alopecia

A 68-year-old White man presented with a 2-year history of asymptomatic, widespread comedones associated with patchy alopecia of the scalp and eyebrows and total alopecia of axillary and pubic hairs (Fig 1, A to C). Histopathology of a comedonal area demonstrated a dilated, follicular infundibulum with keratotic plugging and a perifollicular band-like CD4-predominant atypical T-lymphocytic infiltrate leading to the detachment and infiltration of the follicles (Fig 1, D and E). Subsequently, erythematous, erosive plaques started to develop on the trunk and limbs of the patient (Fig 1, F), the histopathology of which showed a more extensive, diffused, epidermotropic infiltrate containing CD4-predominant T lymphocytes with sparse medium- to large-sized lymphocytes (Fig 1, G).

Type 1 diabetes in DKA with hypogonadotropic hypogonadism and pituitary apoplexy – A diagnostic dilemma

A 17-year-old underweight boy came with a classical emergency of diabetic ketoacidosis associated with two additional clinical features; persistently low blood pressure despite adequate fluid resuscitation and hypogonadal features with Tanner stage 3 pubic hair, absent facial, and axillary hair along with a high-pitched voice. These findings triggered an endocrine workup which revealed hypogonadotropic hypogonadism. Suspecting primary pituitary pathology, an magnetic resonance imaging brain, was done which showed a well-defined hyperintense lesion in the pituitary suggestive of pituitary apoplexy. In the absence of headache, diplopia, and visual field defects, this incidental finding posed a dilemma regarding the diagnosis and management of diabetic ketoacidosis in the presence of apoplexy.