NON CLASSICAL 21 HYDROXYLASE DEFICIENCY IN CHILDREN
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hirsutism
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Sir.—Dr Ruvalcaba's letter concerning the rarity of familial isosexual precocity in females intrigued us, since anecdotally our experience was different.1We then reviewed the charts of 58 girls in whom isosexual precocious puberty had been diagnosed. They were all seen in our endocrine clinic over the past six years. Three girls (5.2%) had family histories indicating that other family members had also experienced sexual precocity. Patient Reports.—Patient1.—A girl aged 7 years 11 months had onset of breast development at age 6 years and pubic hair development at 7½ years of age. Her height age was 11½ years. Breast and pubic hair development were each at Tanner stage III. Her bone age was 11½ years. Laboratory values included: follicle-stimulating hormone (FSH), 3.2 mIU/mL (IU/L); luteinizing hormone (LH), 4.7 mIU/mL (IU/L) (prepubertal normal levels for each, 5 mIU/mL [IU/L]); and estradiol, 58 pg/mL (213 pmol/L) (prepubertal normal,
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Abstract Introduction Turner Syndrome (TS) is caused by monosomy or structural abnormalities of the X chromosome, with a prevalence of about 1/2000 females live birth. Most important clinical features of TS are short stature and gonadal failure. Approximately one third of girls with TS may undergo spontaneous puberty. Here we report on the case of a girl with a rare 45X0/47XXX mosaic TS exhibiting a precocious puberty. Case report The patient was diagnosed with TS at the age of 4 years, upon a diagnostic work-up for dysmorphic features. Chromosome analysis revealed a mosaic karyotype (45X0/47XXX). She presented with normal height and normal growth velocity so that Growth Hormone (GH) therapy was not started. She was referred to our Department at the age of 7 years and 10 months, because of vaginal bleeding. A physical examination revealed a Tanner stage III for breast and Tanner stage III for pubic hair development. Height and weight were within the normal range for age. Psychological evaluation showed moderate global developmental delay, together with emotional and social immaturity and reading difficulties. The growth rate was accelerated. Her bone age was 10 years. Pelvic ultrasound demonstrated increased size for age of both the uterus and the ovaries, with bilateral ovarian follicles. GnRH stimulation test revealed pubertal response of gonadotropins (peak LH 22.5 mIU/ml). MRI of the brain was normal. These clinical, radiologic and laboratory findings were consistent with a diagnosis of idiopathic central precocious puberty; therefore, GnRH analog therapy was started, in order to slow pubertal progression and to preserve adult stature. Furthermore, GH treatment was added to further improve adult height. Conclusion Our case highlights the possibility of precocious puberty as an atypical clinical feature of TS. Thus, precocious puberty may occur in TS girls when a dosage compensation by the cell line with more than two X chromosomes allows normal ovarian function. GnRH analog therapy in addition to GH treatment should be recommended in TS girls with precocious puberty in order to slow pubertal progression and to preserve adult stature.
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Japanese children appear to grow and mature faster than Caucasian children. To investigate such ethnic differences, we studied 2 cohorts of children in the Tokyo metropolitan area. Skeletal maturation (Greulich-Pyle method) and secondary sex characteristics (Tanner's criteria) were assessed in 731 boys and 573 girls aged 1-19 years who attended for minor illnesses between 1985 and 1991. The menarchial age (“status quo”method) was assessed in 2234 girls aged 9-18 years who were enrolled in a private school in 1989.The mean bone age exceeded chrononological age by at least 1 year in pubertal children of both sexes. The first sign of puberty was testicular growth (≥ 3ml) in boys, being attained at a mean age of 10.8 years, and breast development (Tanner stage 2) in girls, at a mean age of 10.0 years. The mean age for Tanner stage 4 pubic hair development was 14.9 years for boys and 13.9 years for girls, respectively. The mean menarchial age was 12.25 years with a standard deviation of 1.25 years.The results indicate that skeletal and sexual maturation is approximately 1 year earlier in Japanese compared to Caucasians, though pubic hair development is significantly slower in Japanese. The difference in the overall pattern of skeletal and sexual maturation between Japanese and Caucasians calls for specific Japanese standards for bone age and sexual maturation stages.
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BACKGROUND: Children with primary hypothyroidism usually presents with delay in linear growth and pubertal development, but in rare instances they can present with precocious puberty. In 1960, presentation of primary hypothyroidism with precocious puberty was first reported and labelled as Van Wyk Grumbach syndrome (VWGS). We report a case of VWGS in a six years old girl. CASE DESCRIPTION: A six years old girl presented with precocious puberty accompanied by short stature and delayed bone age due to untreated hypothyroidism. On examination she had Tanner’s stage B3 (breast development) and P2 (pubic hair). She had normal external genitalia. On workup her Thyroid Stimulating Hormone was 100 mIU/ml, Free-T4 0.7 was ηg/dl, Follicle Stimulating Hormone 8.1 mIU/ml, Luteinizing Hormone 0.12 mIU/ml, estradiol 58 ρg/ml and prolactin 177 ηg/ml. Pelvic ultrasound revealed a uterine size of 5.4 × 3.2 × 3.6 cm and enlarged ovaries with multi cystic appearance. She was started on 50 µg of Levo-thyroxine per day and then was reassessed after 9 weeks of treatment which showed improvement in her Tanner’s Stage and hormonal profile. CONCLUSION: The girl was diagnosed as VWGS and responded to the treatment which was evident by improvement in her physical and biochemical assessment.
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Abstract Introduction: Familial Male-Limited Precocious Puberty (FMPP), also known as testotoxicosis, is a rare cause of precocious puberty in males. It is caused by a mutation in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene, resulting in the receptor to be constitutively activated. This results in precocious puberty in males with rapid skeletal maturation and compromised final adult height if not treated. A combination on anti-androgens and aromatase inhibitors are the mainstay of treatment. Case: A 16-month-old male presented to our clinic due to concerns of precocious puberty. Pubic hair was noted at 6 months of age along with rapid growth acceleration. There was no known exposure to testosterone and no family history of early puberty or subnormal adult height. Upon presentation, his height was over the 99th percentile while his target height is at the 50th percentile. Physical examination revealed prepubertal testes with pubic hair at Tanner stage II. A bone age was reported as 12-18 months at a chronologic age of 12 months. Initial lab evaluation revealed normal serum levels of 17 OHP, androstenedione and DHEA-S with a slightly elevated serum LH (0.7mIU/ml), and very elevated serum testosterone level (289ng/dl). Leuprolide and ACTH stimulation tests as well as MRI of the abdomen and pelvis were normal. Serum levels of AFP, β-hCG and IGF-1 were also normal. Bone age advanced to 6 years at a chronological age of 21 months and to 8 years by 26 months of age. At 26 months of age, his stretched penile length measured 11cm. LH receptor testing was obtained, which revealed a novel heterozygous missense mutation in the LHCGR gene (c.1733A>C; p.Asp.578Ala). The mutation was reported to be a variant of unknown significance though likely in the pathological end of the spectrum by variant analysis with SIFT and PolyPhen. He was started on treatment with anastrozole 1 mg daily and bicalutamide 25 mg daily at 2 and 9/12 years of age. Pubertal progression, linear growth and skeletal maturation slowed down with treatment. His bone age remained stable at 13 years from the age of 2 and 10/12 years to 4 years old. Pubertal stage and stretched penile length have also remained stable on treatment. He is tolerating treatment well. Conclusion: We report a novel mutation in the LHCGR gene causing FMPP in a 6-month-old male who is responding very well to a combination of bicalutamide and anastrazole with marked decrease in growth velocity, pubertal progression and skeletal advancement.
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Abstract Hyperandrogenism—clinical features resulting from increased androgen production and/or action—is not uncommon in peripubertal girls. Hyperandrogenism affects 3 to 20% of adolescent girls and often is associated with hyperandrogenemia. In prepubertal girls, the most common etiologies of androgen excess are premature adrenarche (60%) and congenital adrenal hyperplasia (CAH; 4%). In pubertal girls, polycystic ovary syndrome (PCOS; 20–40%) and CAH (14%) are the most common diagnoses related to androgen excess. Androgen-secreting ovarian or adrenal tumors are rare (0.2%). Early pubic hair, acne, and/or hirsutism are the most common clinical manifestations, but signs of overt virilization in adolescent girls—rapid progression of pubic hair or hirsutism, clitoromegaly, voice deepening, severe cystic acne, growth acceleration, increased muscle mass, and bone age advancement past height age—should prompt detailed evaluation. This article addresses the clinical manifestations of and management considerations for non-PCOS-related hyperandrogenism in adolescent girls. We propose an algorithm to aid diagnostic evaluation of androgen excess in this specific patient population.
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Abstract The correlation of skeletal maturation with the chronological ages of the onset of f our secondary sexual characteristics (menarche, appearance of pubic hair and axillary hair, and breast development) was studied in a group of 117 Southern Chinese girls aged between 11 years, 9 months and 12 years, 3 months, who were born and brought up in Hong Kong. The skeletal maturation was assessed from left hand and wrist radiographs by the Greulich and Pyle Atlas Method (1959). The early maturers in sexual maturation were significantly more advanced in skeletal maturity with p<0.001.
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Introduction: Precocious puberty is defined as the appearance of secondary sexual characteristics before the age of 8 in girls and 9 in boys. Objective: Emphasize the Pediatrician´s role in the diagnosis, treatment and follow-up of patients with precocious puberty. Description: Case 1: Girl, 4 years and 11 months old. Thin and scarce pubic hair since 6 months of age. No hypertrophy of the clitoris or breast. Overweight. Normal growth rate and neurodevelopment. Examination: scarce curly pubic hair, non-estrogenic mucosa. Increase in breast size. Breast ultrasound shows lipomatosis. Bone age: 5 years. Case 2: Girl, 6 years and 11 months old. Painful bilateral and symmetric breast growth, no galactorrhea. Oppressive, moderate and non-progressive headache. No intracranial hypertension. Pubarche, no menarche. Adequate neurodevelopment. Obese. Growth rate above the 90 percentile. Tanner III. Non-estrogenic genital mucosa. Bone age: 13 years. Gynecological ultrasound shows prepubertal uterus. Normal FSH, LH, estradiol, prolactin, TSH, T4 and cranial MRI. Treatment is initiated with leuprolide acetate. Discussion The appearance of thelarche, pubarche or menarche in patients with normal bone age, as in Case 1, constitutes an ordinary variation of puberty. However, as shown in Case 2, the presence of multiple sexual characteristics and advanced bone age must be considered as precocious puberty indicators. Pediatricians have an important role in the diagnosis and treatment of precocious puberty, as well as in the patient´s follow-up. Both anamnesis and physical examination are key to guide the diagnosis.
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Von Recklinghausen's disease belongs to a group of neurocutaneous syndromes and is characterised by skin, nerve and bone abnormalities. We present a case of von Recklinghausen's disease and precocious puberty in 7-year-old boy. At the age of three café au lait spots on the skin and an incranial tumour situated near the optic chiasm--qualified as inoperable--were discovered. At the age of 7 first signs of precocious puberty appeared (pubic hair P3 and enlargement of the testes (15 ml) and penis). Laboratory measurements included: LH 7.5 mIU/ml, FSH 1.1 mIU/ml, testosterone 183 ng/ml, assessment of bone age: 9 years. The response to LHRH stimulation was characteristic for true precocious puberty (LH 15.9 mIU/ml and FSH 1.5 mIU/ml after 30 minutes). The MRI of the brain showed a tumour of the suprasellar region with compression of pituitary stalk. True precocious puberty was diagnosed. Treatment with Diphereline was introduced. At present the boy is 9 years old and has been treated with Diphereline for 16 months. The volume of the testicles has decreased to 7 ml and loss of pubic hair was noted. The MRI does not show any progression in tumour growth. The authors would like to underline the need of close observation of children with von Reclinghausen disease with regard to possibility of uncovering true precocious puberty which is critical for rapid diagnosis and introduction of correct treatment.
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