Absence Of Axillary Hair Research Articles

Pituitary Stalk Interruption Syndrome in a 40-Year-Old Female With Absent Uterus and Ovaries

Background: A patient with multiple pituitary hormone deficiencies due to a rare congenital pituitary defect also presented with an absent uterus and ovaries. Coexisting Müllerian agenesis was suspected, however hormone replacement unraveled a different story. Case Presentation: A 40-year-old female presented with generalized body weakness and euvolemic hyponatremia. She also had cold intolerance, constipation, primary amenorrhea and dyspareunia. As a child, she was worked up for short stature but was lost to follow up. Physical examination showed Tanner stage 1 breast and pubic hair, and absence of axillary hair. She had no facial anomalies, visual abnormalities or anosmia. Hormone panel was consistent with panhypopituitarism: ACTH 5.69 pg/mL (<46 pg/mL), cortisol 1.9 ug/dL (4.30-22.40 μg/dL), TSH 3.375 uIU/mL (0.55-4.78 uIU/mL), FT4 0.51 ng/dL (0.55-4.78 uIU/mL), FT3 1.79 pg/mL (2.30-4.20 pg/mL), LH <0.07 mIU/mL (1.9-12.5 mIU/mL), FSH 0.95 mIU/mL (2.5-10.2 mIU/mL) and IGF-1 40.8 ng/dL (109-284 ng/mL). Bone age was delayed (16-year-old) but with most ossification centers fused. Pituitary MRI showed hypoplastic anterior pituitary, ectopic posterior pituitary and absent pituitary stalk suggestive of Pituitary Stalk Interruption Syndrome (PSIS). Low estradiol 19.35 pg/mL (19.5-144.2 pg/mL) in the setting of low LH and FSH was compatible with hypogonadotrophic hypogonadism. She had female-range serum testosterone level <0.007 ng/mL (0.1209-0.5946 ng/mL) and karyotype of 46XX. Transvaginal ultrasound revealed a blind vaginal pouch with absent uterus, fallopian tubes and ovaries; hence Müllerian agenesis was also considered. Hormonal replacement with prednisone, levothyroxine and conjugated equine estrogen was started. Secondary osteoporosis was treated with alendronate, calcium and vitamin D on top of estrogen therapy. Six months after initiation of estrogen, there was appearance of a small anteverted uterus and atrophic right ovary. Müllerian agenesis was ruled out and hypogonadotropic hypogonadism was proved to be the cause of the initial absence of the uterus and ovaries on imaging. Conclusion: Increased awareness of PSIS is important since early and accurate diagnosis is crucial for timely initiation of hormone replacement. This case also demonstrates the need for reassessment after hormonal replacement in patients with severe estrogen deficiency and apparent Müllerian agenesis.

Poland's syndrome with dextroposition and paradoxical breathing.

An asymptomatic 60-year-old woman presented to our outpatient clinic for a routine health screening as part of a government welfare program. Her medical history was unremarkable, however physical examination revealed hypoplasia of the left chest wall muscles, breast tissue, nipple, absence of axillary hair, absence of the costal cartilages of upper ribs on the left side of the chest and brachydactyly in the left hand. There was also paradoxical breathing at the levels of the 2nd, 3rd and 4th rib of the left chest. The rest of the examination was unremarkable. The chest radiograph revealed reduced upper left hemithorax volume with partial rib agenesis of the 2nd, 3rd and 4th rib, bilateral cervical ribs, dextroposition of the heart and mid thoracic scoliosis with convexity to the left. A 12-lead electrocardiogram revealed a sinus rhythm with a normal axis, lead 1 has upright P, QRS, and T waves and aVR is globally negative. The precordial leads show normal R Waves in V1-4, deep S waves in V1-2, small S waves in V3-4 and no S waves in V5-6. There is diminution of the precordial complexes in V3, 4, 5 and 6. These findings are consistent with a dextroposition of the heart. The blood investigations were unremarkable. The findings from physical examination, chest radiograph and 12 lead electrocardiogram are consistent with Poland's Syndrome. As the patient was otherwise well and not bothered by her condition, no treatment was initiated for her.

Severe forms of complete androgen insensitivity syndrome caused by a p.Q65X novel mutation in androgen receptor: Clinical manifestations, imaging findings and molecular genetics

Androgen insensitivity syndrome (AIS), a rare X-linked recessive genetic disorder with a normal 46, XY karyotype, is caused by defect of androgen receptor gene (AR) leading to resistance of the target tissues to androgenic hormones. There is a wide spectrum of clinical presentations of AIS, ranging from male infertility, hypospadias to completely normal female external genitalia. Here, we describe a 15-year old, phenotypically female individual, who visited our clinic for primary amenorrhea. The physical examination revealed normal female external genitalia, normal breast development, as well as sparse pubic hair and absence of axillary hair. A short blind vagina pouch was noticed in gynecological examination apart from the absence of cervix and uterus. Serum testosterone measured a considerable high level, and the karyotype was indicative of a normal male (46, XY). Transabdominal ultrasound (US) and magnetic resonance imaging (MRI) confirmed the absence of uterus, ovaries and fallopian tubes, only with a small blind-ending vagina observed. The clinical, laboratory, imaging, and genetic findings strongly suggest the diagnosis of complete androgen insensitivity syndrome (CAIS). Mutational analysis of the AR gene revealed a novel small insertion mutation c.192_193insTAGCAG(Q65X) in exon 1, which gives rise to a truncated nonfunctional protein, resulting in the loss of the remaining 856 C-terminus amino acid residues. This study indicates that US and MRI are two useful and noninvasive imaging methods for the diagnosis and evaluation of CAIS, and identification of this novel mutation expands the database of AR gene mutations. Furthermore, with the availability of the identification technology for this mutation, prenatal diagnosis could be offered for future pregnancies.

Sheehan Syndrome in Costa Rica: Clinical Experience With 60 Cases

To describe the clinical and hormonal characteristics of patients with Sheehan syndrome. We performed a 20-year cohort study (1969 to 1989) of patients with Sheehan syndrome who were cared for in the endocrinology unit of the México Hospital in San José, Costa Rica. Medical history, physical examination findings, and laboratory test results were documented and reviewed. Sixty patients with a diagnosis of Sheehan syndrome were identified. Mean age at diagnosis was 45.8 ± 10.6 years. The average time between the previous obstetric event and Sheehan syndrome diagnosis was 13 years. Thirteen patients (22%) had a home birth. The median parity was 7. The most frequent obstetric antecedents were history of obstetric hemorrhage in 49 (82%), shock in 28 (47%), blood transfusion in 26 (43%), and peripartum hysterectomy in 4 (7%). The most common symptoms included asthenia and adynamia in 51 (85%), amenorrhea in 44 (73%), loss of axillary or pubic hair in 40 (67%), and agalactia in 40 (67%). The most common findings on physical examination were absence of axillary hair in 56 (93%) and pubic hair in 56 (93%), dry skin in 49 (82%), and pallor in 42 (70%). When a combined pituitary test was performed, 38 of 38 patients (100%) had human growth hormone deficiency, 29 of 30 patients (97%) had adrenal insufficiency, 8 of 10 patients (80%) had hypothyroidism, 8 of 12 patients (67%) had hypogonadism, and 9 of 13 patients (69%) had prolactin deficiency. Despite early onset of symptoms, Sheehan syndrome was diagnosed relatively late in these 60 patients. Hemorrhage during the last delivery, especially if severe and/or associated with shock or transfusion, was the most important obstetric antecedent event. Absence of amenorrhea or presence of postpartum lactation did not exclude the diagnosis. Abnormal responses of human growth hormone to insulin tolerance testing and of prolactin to thyrotropin-releasing hormone confirm the diagnosis. Identification of patients affected with Sheehan syndrome is critical to avoid delays in diagnosis and treatment. Appropriate replacement therapy is capable of yielding complete remission of symptoms.

Simultaneous costal cartilage-sparing modified Ravitch procedure and latissimus dorsi transfer for chest wall deformity repair in Poland's syndrome

Poland's syndrome is a constellation of rare congenital anomalies that include hypoplasia of breast and underlying subcutaneous tissue, absence of the costosternal portion of the pectoralis major muscle, deformity or absence of ribs, absence of axillary hair, and syndactyly. Various surgical techniques have been described to repair such chest wall defects. We report a case of simultaneous Fonkalsrud procedure (costal cartilage-sparing version of the modified Ravitch procedure) and latissimus dorsi transfer in a 15-year-old boy with Poland's syndrome. The Fonkalsrud procedure has been used in the repair of pectus excavatum and pectus carinatum, and latissimus dorsi muscle transfer has been used in the repair of Poland's syndrome. In this report, we describe their combined use in an adolescent with severe pectus excavatum associated with Poland's syndrome. This combination of established operations resulted in a successful outcome.

R831X mutation of the androgen receptor gene in an adolescent with Complete Androgen Insensitivity Syndrome and bilateral testicular hamartomata

An 18-year old, phenotypically female individual was examined for primary amenorrhea. Three months before her referral, the patient underwent surgery and a pelvic mass was removed. The physical examination revealed normal female external genitalia, normal breast development, sparse pubic hair and absence of axillary hair. The gynecological examination revealed a short blind vagina pouch and absence of cervix and uterus. Serum testosterone and dihydrotestosterone levels were very high. Karyotype was that of a normal male (46,XY). The transabdominal ultrasound, computed tomography (CT) and Magnetic resonance imaging (MRI) showed absence of uterus and fallopian tubes and revealed testis-like gonads located at the internal opening of the inguinal canal bilaterally. Bilateral gonadectomy was subsequently performed. The pathology report was that of "hamartomatous testes" and associated paratesticular leiomyoma. The clinical, laboratory, imaging, genetic and histological findings confirmed the diagnosis of complete androgen insensitivity syndrome. DNA analysis revealed a R831X mutation in exon 7 of the androgen receptor gene. A Sertoli-cell dynamic test showed elevated basal serum inhibin-B and anti-Müllerian hormone levels without further rise following FSH stimulation. The patient was started on hormone replacement therapy with conjugated estrogens. Complete androgen insensitivity syndrome must be considered in any case of primary amenorrhea. Gonadectomy must be planned to eliminate the risk of gonadal malignancy.

Congenital absence of the breasts: A case report

Congenital absence of the breasts is an extremely uncommon condition that has been reported associated with some syndromes. The current case was not associated with any known syndrome. This is the first report of congenital absence of the breasts associated with a cardiovertebral alteration and absence of axillary hair.

Sea-Blue Histiocyte Syndrome in Thai Siblings

We report two cases of sea-blue histiocyte syndrome in Thai siblings. The abnormal histiocytes were found in the bone marrow and liver of both patients, but none was found in the other members of the family. Cirrhosis and absence of axillary hair were present in both patients. One patient also had elephantiasis of the legs and Klinefelter's syndrome. Our studies support an autosomal recessive inheritance.

Treatment of excessive height in girls: A long-term study

Five prepubertal girls were given estradiol valerate cyclically for one year or longer, in order to accelerate epiphyseal maturation. Growth during the first year averaged 11.3 cm., weight gain averaged 10.2 kilograms, and the bone age advanced 30 months. Full genital and breast development was also achieved with a marked lag in growth of pubic hair and an absence of axillary hair. The 17-ketogenic steroids were moderately elevated in only 1 patient. Treatment in the second and third years produced only slight further growth.