Congenital Adrenal Hyperplasia Presenting Research Articles

Late presentation of lipoid congenital adrenal hyperplasia in a phenotypic male

Late presentation of lipoid congenital adrenal hyperplasia in a phenotypic male

Familial congenital adrenal hyperplasia (CAH) presenting as addisonian crises - case series

Familial congenital adrenal hyperplasia (CAH) presenting as addisonian crises - case series

FRI245 Non-classic CAH Presenting As Bilateral Adrenal Incidentalomas

Abstract Disclosure: Y.A. Chin: None. T. Puar: None. T. King: None. Introduction: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive disorder. Non-classic CAH usually presents in late childhood or asymptomatic may remain undiagnosed. Adrenal incidentalomas have been reported as a presentation of CAH. Clinical Case: A 56-year-old man presented with a 4-day history of epigastric pain associated with chest discomfort and diaphoresis. There was no postural giddiness, vomiting, paroxysm or constitutional symptoms. He was a smoker, his parents were non-consanguineous and he had fathered 2 children. He was tachycardic at 114 bpm, but normotensive (129/89 mmHg) with no postural hypotension and no abnormal pigmentation. He had evidence of heart failure with bibasal crepitations and pedal oedema. Secondary sexual characteristics were normal and testicular volume was 15 mls bilaterally with no palpable mass. CT abdomen showed grossly enlarged bilateral adrenal glands with heterogenous nodular appearance with several focal hypodense cystic components, with absolute washout <60%. Biochemistry was consistent with primary adrenal insufficiency (PAI); 8am serum cortisol 188 nmol/L, with peak cortisol post 250mcg synacthen of 195 nmol/L. Serum ACTH was elevated at 254.6 ng/L, aldosterone and renin were normal and 24hr urinary normetanephrine was mildly elevated at 1982 nmol/d (NR 600-1900 nmol/d). Echocardiography revealed severe global hypokinesia (EF 20%) but myocardial perfusion imaging was negative for ischemia. In view of suspicion for tuberculosis, malignancy or infiltrative disease, CT guided adrenal biopsy was performed. Histology showed hyperplastic adrenal cortex with lipofuscin pigments, focal lymphohistiocytic infiltrates. No lymphoplasmacytic infiltrate with IgG 4 plasma cells, granuloma, malignant cells or amyloid deposits were seen. Serum 17-OHP level later came back elevated at 39.7 nmol/L (NR 1.8-10.4 nmol/L). DNA sequencing of CYP21 revealed compound heterozygous mutations in c.292+1G>A and c.518T>A, both of which have been reported to be causative of CAH. He was transitioned from stress dose to physiological glucocorticoid replacement and ACTH normalised on subsequent outpatient visits. Follow up imaging after 6 months and 2 1/2 years revealed no change in size or morphology of the adrenal glands. Follow up echocardiography showed no improvement in ejection fraction despite intensive heart failure treatment. Conclusion: Nodular adrenal hyperplasia is well described among CAH individuals, especially in those with inadequate glucocorticoid replacement and chronically elevated ACTH levels. There was no change in size of the adrenal lesions despite adequate glucocorticoid replacement. Improvement of cardiac function with glucocorticoid replacement has been reported in paediatric patients with CAH, but our case did not show any improvement on serial echocardiography. Presentation: Friday, June 16, 2023

A case of 17-alpha-hydroxylase deficiency congenital adrenal hyperplasia presenting with delayed puberty

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Atypical late presentation of congenital adrenal hyperplasia with adrenal myelolipomas

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Abstract 64: Clinical and hormonal profile of congenital adrenal hyperplasia from a tertiary centre in India

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders due to defect in enzymes involved in adrenal steroidogenesis with varied clinical presentations.Aims and Objectives: To understand the clinical and hormonal profile of individuals with CAH.Results: Twenty nine patients were included in this cross sectional study ( males (n) =15 (51.7%)) and females (n=14 (48.3%)) (adults=11) (born out of consanguineous marriage = 22 and 3 pairs of siblings). Thirteen patients had salt wasting (SW) phenotype, 14 had simple virilizing (SV) and 2 had non classical CAH (NCCAH). The presentation of SW phenotype was salt wasting crisis in males and ambiguous genitalia in females. The presentation of SV phenotype was clitoromegaly in females; precocious puberty and premature adrenarche in males. All the patients with NCCAH were females with virilization and primary amenorrhea. Majority of patients are on hydrocortisone (82.7%), the rest on prednisolone (13.7%) and dexamethasone (3.4%). Adult females with SV and NCCAH phenotypes had higher 17OHP levels at follow up. Mean adult height of patients with NCCAH was better than SV patients (154.5 cms vs 145.2 cms)Conclusions: The presentation of CAH may be varied but a screening at birth will help us to detect it early.

Impact of Newborn Screening on Clinical Presentation of Congenital Adrenal Hyperplasia.

Background and Objectives: The main reason for Newborn screening (NBS) for congenital adrenal hyperplasia (CAH) is to prevent adrenal insufficiency that can lead to life-threatening conditions. On the other hand, screening programs are not always sensitive and effective enough to detect the disease. We aimed to evaluate impact of the national NBS on the clinical presentation of patients with CAH in Lithuania. Materials and Methods: A retrospective study was performed on data of 88 patients with CAH from 1989 to 2020. Patients with confirmed CAH were divided into two groups: (1) 75 patients diagnosed before NBS: 52 cases with salt-wasting (SW), 21 with simple virilising (SV) and two with non-classical (NC) form; (2) 13 patients diagnosed with NBS: 12 cases with SW and 1 case with SV form. For the evaluation of NBS effectiveness, data of only male infants with salt-wasting CAH were analysed (n = 36, 25 unscreened and nine screened). Data on gestational age, birth weight, weight, symptoms, and laboratory tests (serum potassium and sodium levels) on the day of diagnosis, were analysed. Results: A total of 158,486 neonates were screened for CAH from 2015 to 2020 in Lithuania and CAH was confirmed in 13 patients (12 SW, one–SV form), no false negative cases were found. The sensitivity and specificity of NBS program for classical CAH forms were 100%; however, positive predictive value was only 4%. There were no significant differences between unscreened and screened male infant groups in terms of age at diagnosis, serum potassium, and serum sodium levels. Significant differences were found in weight at diagnosis between the groups (−1.67 ± 1.12 SDS versus 0.046 ± 1.01 SDS of unscreened and screened patients respectively, p = 0.001). Conclusions: The sensitivity and specificity of NBS for CAH program were 100%, but positive predictive value—only 4%. Weight loss was significantly lower and the weight SDS at diagnosis was significantly higher in the group of screened patients.

The presentation of congenital adrenal hyperplasia in an unscreened population.

The aim of this study was to describe the incidence and spectrum of early clinical presentations of congenital adrenal hyperplasia (CAH) in an unscreened population. A national retrospective observational study was undertaken to identify all children diagnosed with CAH in the Republic of Ireland, between January 2005 and December 2019. Reporting clinicians completed anonymized clinical questionnaires. There were 103 cases of CAH reported and 69 cases met the study inclusion criteria. The estimated annualized incidence of CAH in the Republic of Ireland was 1:14,754 or 0.07 cases per 1,000 live births. Forty-seven children presented clinically in the first six months of life, but only 17 of these had a confirmed diagnosis by day 10. Of these early presentations, there were 28 infants with salt-wasting, 15 females presented with virilized genitalia and four infants were detected due to a family history of CAH. Female infants presented at a median age of 0days [IQR 0-1] and males at 14days [IQR 9-21]. Seventy-eight percent of salt-wasting presentations occurred after day 10. Delays in clinical presentation, biochemical diagnosis and treatment initiation were identified. The incidence of CAH is higher in Ireland than in other unscreened populations. In the absence of screening, clinicians should be aware of the possibility of CAH and appropriate investigations should be urgently requested. Life-threatening salt-wasting is the most frequent clinical presentation and many cases could be detected prior to decompensation if newborn screening were introduced.

Classic CAH Presenting in Adulthood: Experience From a Tertiary Care Hospital in Eastern India

Abstract Classic CAH presenting in adulthood: Experience from a tertiary care hospital in Eastern India: Congenital adrenal hyperplasia(CAH) is one of the most common genetic disorders transmitted as an autosomal recessive trait. Of the various forms CAH due to 21-hydroxylase deficiency is most common. Based on the clinical phenotype CAH can be classified as classic and non-classic form. It is very rare for classic CAH to present in adulthood. We describe 3 patients with classic CAH presenting in adulthood. Case 1: 21 year old female presented with complaint of not attaining menarche. She had features of virilisation t with a modified Ferriman Gallwey(FG) score of 18/36, pubic hair stage 4 and atrophied breasts. Genital examination revealed clitoromegaly (CI-100 mm2) with Prader stage 2. Biochemical evaluation revealed elevated levels of serum testosterone (257.2 ng/dl), 17-hydroxy progesterone(332 ng/ml), DHEAS(417 µg/dl) and PRA of 34ng/ml/hr. Case 2: 30 year old female presented with complaint of primary infertility for 5 years. She had history of delayed menarche at 20 years and oligomenorrheic cycles since last 10 years. On examination there was hirsutism with a modified FG score of 15/36, pubic hair stage 5 with atrophied breasts. Genital examination revealed symmetrical genitalia with nonpalpable gonads, clitiromegaly(CI=135mm2) and a single urogenital opening (Prader stage 3). Biochemical evaluation revealed elevated levels of serum testosterone (812ng/dl), 17-hydroxy progesterone (164.8 ng/ml), DHEAS (503 µg/dl) and PRA of 42ng/ml/hr. Case 3: 26 year old female presented with complaint of noticing excessive hair growth in androgen dependent areas. On examination there was short stature,modified FG score 16/36, pubic hair stage 5 with atrophied breasts. Genital examination revealed clitoromegaly (CI=75mm2) with Prader stage 2. Biochemical evaluation revealed elevated levels of serum testosterone (254.2 ng/dl), 17-hydroxy progesterone (351.8 ng/ml), DHEAS (296.2 µg/dl) and PRA of 30ng/ml/hr. Karyotype in all the three patients was 46,XX. All our patients had serum testosterone values in tumorous range, however imaging studies didnot reveal any evidence of malignancy in the adrenals except for occurrence of a single right adrenal nodule of size 2×2.1cm with precontrast HU of <10 and absolute contrast washout of >60% in case 2. Based on clinical and biochemical findings a diagnosis of classic CAH was made. They were started on corticosteroid and mineralocorticoid replacement. In all of the above three patients none of them had been evaluated for the presenting complaints prior to visiting our centre. Failure of implementation of neonatal screening for CAH in many centres in India and the social stigma associated with genital ambiguity are contributory to the delay in diagnosis of CAH.

Variations in the Initial Presentation of a Rare Congenital Adrenal Hyperplasia: Steroidogenic Acute Regulatory Deficiency

Background: Steroidogenic Acute Regulatory (StAR) deficiency is a rare form of congenital adrenal hyperplasia characterized by dysregulated cholesterol transport mediated by StAR enzyme across mitochondrial membranes. Adrenal dysfunction is due to the two-hit hypothesis: 1) defective StAR protein and 2) cholesterol accumulation in the adrenals and gonads. With variable cellular damage, adrenal crisis can occur early or late. Clinical cases: We present two cases of StAR deficiency with contrasting presentations. Case 1: A 9-day old ex full term female from a nonconsanguineous union presented to a rural hospital with hypothermia, lethargy, and poor feeding. She had hypoglycemia 41 mg/dL (60–105), hyponatremia 120 mEq/L (135–145), hyperkalemia 7.7 mEq/L (3.5–5.5) and cortisol < 0.4 ug/dL (4.5–23). Baby was started on hydrocortisone (HCT) 100 mg/m2 and one-time fludrocortisone (FCT). She decompensated requiring chest compressions, intubation and pressors. She was transferred to our institution. Newborn screen was normal; she had typical female external genitalia. US demonstrated a uterus; ovaries and adrenals were not identified. Upon extubation and clinical improvement, her HCT was weaned to physiologic doses. She became hyponatremic requiring FCT and salt supplements. Post-HCT wean, ACTH level was 304 pg/mL (7–63) with aldosterone < 4.0 ng/dL (6.5–86). Karyotype was 46,XX. Genetic analysis revealed a novel heterozygous likely pathogenic variant in the STAR gene, (STAR c.65-12_68del variant) without defect in the other STAR gene. Case 2: A 9-month-old ex full-term female of Iraqi descent from a nonconsanguineous union presented with fatigue, poor oral intake and weight loss from 50%-ile to 3%-ile. She had hyponatremia 122 mEq/L, hyperkalemia 8.0 mEq/L, but was normoglycemic. She was normotensive; EKG was normal. Parents noted progressive hyperpigmentation including her gums, palmar and plantar creases. She had typical external female genitalia with a hypoplastic clitoris (2 mm x 2 mm). ACTH stimulation test showed low cortisol (0.5 ug/dL) at 60 minutes. She was treated with HCT 100 mg/m2 for 5 days, then tapered to maintenance dosing, with FCT and salt supplements. Her ACTH level returned > 5000 pg/ml. Aldosterone, 17-OH-Progesterone, 17-OH-Pregnenolone, 11-Deoxycortisol and androstenedione were undetectable. Pelvic US did not identify uterus or ovaries. Pelvic MRI identified bilateral inguinal testes with enlarged adrenal glands. Karyotype was 46, XY. We suspected StAR deficiency with sex-reversal. Genetic analysis revealed a known homozygous mutation in STAR (c.545G>A). Conclusion: StAR deficiency is clinically indistinguishable from P450scc deficiency and genetic testing is needed. Both entities can present with early or delayed adrenal crisis. While classic for StAR deficiency, adrenal enlargement is inconsistent. Karyotype is vital to identify sex reversal.

Cerebral infarction in a child with congenital adrenal hyperplasia presenting as acute encephalitis syndrome

Congenital Adrenal Hyperplasia (CAH) is an inherited abnormality of steroid synthesis. It is usually diagnosed in the early neonatal period. Its association with white matter abnormalities in the developing brain has been reported. Cerebral infarction is one of the rarely associated complications of classical CAH. A 5-year-old child had presented with features of acute onset fever, refractory new-onset seizure, and altered sensorium. He was a known case of CAH, on regular exogenous steroid supplementation. Investigations revealed that he had extensive hemorrhagic cerebral infarction. No underlying infective or vascular cause could be detected to explain the etiology of cerebral infarction in this child. Hence, the effect of CAH on the developing brain and an inadequate escalation of steroid dose during stress have led to the cerebral infarction.

The effect of patient-managed stress dosing on electrolytes and blood pressure in acute illness in children with adrenal insufficiency.

Adrenal crises (AC) are acute episodes of adrenal insufficiency (AI). Manifestations include hypotension and electrolyte disturbances. Glucocorticoid stress dosing (SD) can prevent AC progression, but its effect on physiological parameters has not been assessed in a 'real world setting'. To assess the effect of prior self-managed glucocorticoid dose escalation on physiological markers in children with congenital adrenal hyperplasia (CAH) presenting to hospital for an acute illness. An audit of records of all children with CAH presenting to paediatric referral hospital between 2000 and 2015. Potassium, sodium and glucose levels, and hypotension were compared between children who had and had not used SD. There were 321 attendances by patients with CAH and an acute illness during the study period. Any form of SD was used by 64.2% (n=206); intramuscular (IM) hydrocortisone was used by 22.1% (n=71) and oral only by 41.7% (n=134). Use of SD (oral and/or IM) was associated with a significantly lower mean potassium level (4.02±0.71 vs. 4.27±0.79mmol/l, P<.05). Linear regression analysis showed that age (beta: -0.04years (95% CI -0.06, -0.02)), diarrhoea (beta: -0.41 (95% CI -0.06, -0.02)) and any form of stress dosing (oral, IM or both) (beta: -0.29 (95% CI -0.55, -0.04)) were each independently and significantly associated with potassium levels. SD was not significantly associated with sodium or glucose concentrations or with estimates of hypotension. Patient-initiated SD resulted in a significant reduction in hyperkalaemia and lowered mean potassium levels in paediatric patients with CAH but did not alter significantly sodium and glucose concentrations or incidences of hypotension.

Neglected congenital adrenal hyperplasia presenting as recurrent abdominal pain

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with the incidence of the classic type being 1:15,000 births worldwide. It results from defective synthesis of steroid hormones because of deficiency of one of the five enzymes required for synthesis of cortisol. Cases of severe forms of CAH are often missed in developing countries where there is no program for newborn screening with many of them dying in neonatal periods. Management of the mild forms are also hindered or delayed because of superstitions, ignorance and poverty. We present an 11years old girl who presented with abnormal genital since birth and recurrent monthly lower abdominal pain of eight month duration. She had Tanner stage 4 breasts, normal female pubic hair distribution, clitoromegaly, fused scrotalized labia with urogenital sinus and absent vaginal opening. Abdominal ultrasound showed normal female reproductive organs; she had advanced bone age of 16years and elevated serum 17-hydroxyprogesterone level. She’s being worked up for possible genitoplasty.

Recurrent haematuria; a rare presentation of 46XX Congenital adrenal hyperplasia presenting late and reared as males – two cases

Congenital adrenal hyperplasia (CAH) is a group of inherited autosomal recessive disorders characterized by a defect in enzymes involved in biosynthesis of cortisol, aldosterone or both. We report two patients presented with recurrent haematuria with two different forms of CAH who presented late and reared as males. We describe the challenges posed on managing them and how the quality of life will be improved by offering hormonal and surgical remedies without changing or reassigning the gender to females.

Non classical congenital adrenal hyperplasia presenting with a severe salt losing crisis

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

MON-LB049 Central Precocious Puberty as a Presenting Sign of Non-Classical Congenital Adrenal Hyperplasia: Prevalence and Clinical Characteristics

Context: Central precocious puberty (CPP) may be the first presentation of non-classical congenital adrenal hyperplasia (NCCAH) in girls. Data on the prevalence and the clinical phenotype of CPP associated with NCCAH are sparse. Objectives: To study the clinical and laboratory characteristics that could differentiate idiopathic CPP from CPP associated with NCCAH and to determine the prevalence of NCCAH among girls with CPP. Design: Case-control study. Setting: Tertiary pediatric endocrinology institute. Participants and Methods: From 2008 to 2017, 147 girls who had undergone stimulation tests with gonadotropin-releasing hormone and Synacthen were diagnosed with CPP, of whom 7 (4.8%) were eventually diagnosed with NCCAH. These 7 patients together with 30 girls who presented with CPP in1984-2008 and were later diagnosed with NCCAH comprised the NCCAH group. Demographic, anthropometric, clinical, and laboratory data were compared between the NCCAH group and the 140 girls with idiopathic CPP (ICPP group). Results: No between-group differences were found in height, weight, body mass index, bone age, and Tanner stage. Mean basal levels of androstenedione, DHEAS, and 17-OHP were significantly higher in the NCCAH group, although ranges overlapped between the groups, and stimulated cortisol level was higher in the ICPP group. Conclusions: NCCAH was found in 4.8% of girls presenting with true CPP over a 10-year period, and no one parameter could differentiate between the diagnoses. Thus, in girls with true CPP from populations in which NCCAH is prevalent, assessment of adrenal androgens is required and ACTH test should be considered. Unless otherwise noted, all abstracts presented at ENDO are embargoed until the date and time of presentation. For oral presentations, the abstracts are embargoed until the session begins. s presented at a news conference are embargoed until the date and time of the news conference. The Endocrine Society reserves the right to lift the embargo on specific abstracts that are selected for promotion prior to or during ENDO.

MON-399 Congenital Adrenal Hyperplasia Newly Diagnosed in an Octogenarian

Relevance: The most common form of congenital adrenal hyperplasia (CAH) is 21-hydroxylase deficiency, in which a block in cortisol biosynthesis shifts precursors to pathways that make excess adrenal-derived androgens. We report a rare case in which a new diagnosis of CAH due to 21-hydroxylase deficiency occurred in an octogenarian. Clinical case: An 82 year old man presented for evaluation of persistent headache, anorexia, and unintentional weight loss. He was found to have acute worsening of chronic hyponatremia and hyperkalemia with presenting sodium and potassium levels of 121 and 5.8 mEq/L, respectively. He had increased skin pigmentation, but no hypotension or orthostasis. These findings prompted evaluation of his HPA axis. His AM cortisol was 11.9 mcg/dL (6.7-22.6) and ACTH was 1,036 pg/dL (7.2-63.3). After cosyntropin stimulation, his cortisol remained 10.8 at 30 minutes and 10.5 at 60 minutes. DHEA-S was 34.1 mcg/dL (20.8 - 226.4), Renin was 11.5 ng/mL/hr (0.2-5.4) and Aldosterone was < 1.0 ng/dL (0-30). Further hormonal testing showed an AM testosterone 788 ng/dL (264-916), which was higher than expected given the normal age related decline in testosterone. LH was 3.9 mIU/mL (1.2-8.6), FSH was 4.9 mIU/mL (1.3-19.3) and prolactin was 15.4 ng/mL (4.0-15.2). Oral hydrocortisone was initiated: 10mg in the morning and 5mg in the afternoon, in addition to florinef 0.1mg daily. By hospital day 4, his hyperkalemia and hyponatremia had normalized, his headaches resolved, and his appetite improved. Review of a prior CT chest/abdomen/pelvis (done for unintentional weight loss) demonstrated normal adrenal glands with no evidence of malignancy, hemorrhage, enlargement, or atrophy. 21-hydroxylase antibodies were undetectable. On further history, the patient disclosed that adrenarche occurred at age 6. He had short stature in his youth and was treated with growth hormone injections. He and his wife had difficulty conceiving and he was told of low sperm motility but ultimately had three children by natural conception. An insidious presentation of CAH was suspected based on this history and the high normal testosterone levels in this octogenarian. After uninterrupted treatment with hydrocortisone for two weeks, 17-hydroxy progesterone was 800 ng/dL (27-199), his ACTH improved to 660 and his testosterone decreased to 494. A 21-hydroxylase mutational analysis is pending. Conclusions: Classical CAH is typically diagnosed in infancy or youth in the setting of adrenal insufficiency with/without salt wasting, ambiguous genitalia in female infants or virilization. Although atypical to go undiagnosed for decades, non-classic CAH should be considered as a cause of aldosterone and cortisol deficiency, even among elderly patients, who present with signs and symptoms concerning for adrenal insufficiency. Unless otherwise noted, all abstracts presented at ENDO are embargoed until the date and time of presentation. For oral presentations, the abstracts are embargoed until the session begins. s presented at a news conference are embargoed until the date and time of the news conference. The Endocrine Society reserves the right to lift the embargo on specific abstracts that are selected for promotion prior to or during ENDO.

SAT-296 Congenital Adrenal Hyperplasia Presenting as Central Precocious Puberty

Background: Sometimes peripheral precocious puberty (PPP) is the underlying cause of central precocious puberty (CPP) and is called as secondary CPP. In most of the secondary CPP, the role of the PPP is evident at diagnosis of CPP. Here we report a case of secondary CPP who was initially misdiagnosed as idiopathic CPP. Case presentation A-6.25-years-old boy, born of a third degree consanguineous consummation, presented with appearance of pubic hair and enlargement of phallus since the age of 4 years. He has history of mild global developmental delay, predominantly affecting language milestones. There was no family history of early puberty, sibling deaths or ambiguous genitalia. His height was 113 cm (-0.54 SDS ) and mid-parental height was 176.5 (+0.31 SD), Sexual maturity rating was P3, G3 (stretched phallic length: 6 cm) and bilateral testes measuring 5 cc each. He had multiple large café-au-lait spots over the lower extremities with irregular borders. Bone age was 9.5 years. Serum testosterone was elevated (190.1 ng/dl) with LH of 0.31 mIU/ml and FSH of 1.25 mIU/ml. Thyroid function was normal (TSH: 1.11 µIU/ml, FT4: 1.56 ng/dl). Leuprolide stimulation was done which suggested central precocious puberty (peak LH: 10.61mIU/ml, peak FSH: 3.75 mIU/ml). MRI of the pituitary hypothalamic area was normal. He was diagnosed to have idiopathic CPP and was initiated on leuprodile depot preparation 3.75 mg intramuscularly once a month. After 6 months, he had grown 5 cm (and basal serum testosterone was still elevated (185.3 ng/dl), LH: <0.01 mIU/ml). Adequate LH suppression was also confirmed with suppressed LH (peak LH: 0.95 mIU/ml) after leuprolide depot stimulation. Hence, he was suspected to have secondary CPP and was evaluated for the cause. Serum 8:00 am cortisol was 7.48 µg/dl and β-hCG was undetectable. Basal 17OHP (16.79 ng/ml) and ACTH stimulated 17OHP (54 ng/ml) were elevated. Hence, a diagnosis of simple virilising CAH with secondary CPP was done. Patient was started on oral hydrocortisone (10 mg/m2/day) and shifted to leuprodile depot preparation 11.25 mg Q12 weekly. After 3 months basal serum testosterone was 45 ng/ml and LH was < 0.01 mIU/ml. Conclusion: In a patient with hormonal profile suggestive of CPP, a disproportionately smaller testes for a given serum testosterone should suggest a secondary cause for CPP. In patients treated with GnRH agonist for CPP, persistent growth acceleration and/or persistently elevated sex steroid but well-suppressed LH should also suggest a secondary cause for CPP.

Adult presentation of classical Congenital Adrenal Hyperplasia with gender identity disorder

Adult presentation of classical Congenital Adrenal Hyperplasia with gender identity disorder

Central Precocious Puberty as a Presenting Sign of Nonclassical Congenital Adrenal Hyperplasia: Clinical Characteristics.

Central precocious puberty (CPP) may be the first presentation of nonclassical congenital adrenal hyperplasia (NCCAH) in girls. Data on the prevalence and the clinical phenotype of CPP associated with NCCAH are sparse. To study the clinical and laboratory characteristics that could differentiate idiopathic CPP from CPP associated with NCCAH and to determine the prevalence of NCCAH among girls with CPP. Case-control study. Tertiary pediatric endocrinology institute. From 2008 to 2017, 147 girls who had undergone stimulation tests with gonadotropin-releasing hormone and ACTH were diagnosed with CPP; of these, seven (4.8%) were eventually diagnosed with NCCAH. These seven patients together with 30 girls who presented with CPP during 1984 to 2008 and were later diagnosed with NCCAH comprised the NCCAH group. Demographic, anthropometric, clinical, and laboratory data were compared between the NCCAH group and the 140 girls with idiopathic CPP (ICPP group). No between-group differences were found in height, weight, body mass index, bone age, and Tanner stage. Mean basal levels of androstenedione, dehydroepiandrosterone-sulphate, and 17-hydroxyprogesterone were significantly higher in the NCCAH group, although ranges overlapped between the groups, and stimulated cortisol level was higher in the ICPP group. NCCAH was found in 4.8% of girls presenting with true CPP over 10 years, and no single parameter could differentiate between the diagnoses. Thus, in girls with true CPP from populations in which NCCAH is prevalent, assessment of adrenal androgens is required, and ACTH test should be considered.