Isosexual Pseudoprecocious Puberty in a 2½-Year-Old Girl Presenting with Intense Skin Pigmentation (original) (raw)
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Ovarian cysts and tumors as the cause of isosexual pseudoprecocious puberty
Srpski arhiv za celokupno lekarstvo, 2006
Introduction. Precocious puberty in girls is generally defined as appearance of secondary sexual characteristics before eight years of age. Menarche before the ninth birthday may serve as an additional criterion. Precocious puberty is divided in central precocious puberty and pseudoprecocious puberty. Central precocious puberty (GnRH dependent) occurs because of premature activation of hypothalamic-pituitarygonadal axis and activity of gonadotrophins. Pseudoprecocious puberty (GnRH independent) is caused by activity of sexual steroids that are not the result of gonadotrophin activity. Objective. Objective of our study was to examine the etiology, clinical and laboratory manifestations of isosexual pseudoprecocious puberty in girls. Method. In the period between 1995 and 2004, clinical and laboratory sings of 34 girls with precocious puberty were studied at the Endocrine Department of the Institute of Mother and Child Health Care of Serbia. Initial evaluations included height measure...
AACE clinical case reports, 2017
Objective: An estrogen-only-producing adrenal tumor is a rare etiology of isosexual precocious puberty (PP) in girls. Methods: We describe a 2.5-year-old girl who presented with signs and symptoms of isosexual PP. In primary laboratory and imaging investigations, serum estradiol level was found to be increased, while follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, cortisol, testosterone, and 17-hydroxyprogesterone levels were shown to be within normal ranges. Abdominopelvic ultrasound and abdominal computed tomography revealed a right-sided adrenal mass, which was initially assumed to be an incidentaloma. Diagnosis of an adrenal cortical tumor was confirmed by tumor resection. Histologic examination revealed the tumor to be a benign adenoma with scattered areas of necrosis. Results: Tumor resection resulted in normalized serum estradiol and diminished clinical signs after 3 weeks. The child received no additional treatment and remains symptom free after 30 months of close observation. Conclusion: With the intent to spread the awareness of adrenocortical tumors as a potentially malignant cause of PP in children, and due to the rarity of an estrogen-producing adrenal mass, we discuss the clinical and biochemical features of our patient and a brief review of the literature.
An intriguing case of precocious puberty due to an ovarian mass in an infant
Pediatric Endocrinology Diabetes and Metabolism
We present a rare occurrence of precocious puberty (PP) probably due to an autonomous ovarian cyst in a 15-month-old girl who presented to us with growth spurt, breast and pubic hair development, and vaginal bleeding over the last few months. The clinical presentation was suggestive of central precocious puberty (CPP). However, the rapid progression of pubertal changes and occurrence of menarche at breast Tanner stage 2 indicated peripheral precocious puberty (PPP). Due to uncertainty of clinical diagnosis, investigations were conducted for CPP as well as PPP. The basal and peak stimulated LH concentrations were < 0.3 IU/l and < 2 IU/l, respectively, indicating PPP. However, the peak LH : FSH ratio was > 1, which is consistent with CPP. Abdominal imaging revealed an ovarian mass, which was laparoscopically excised, but the true nature of the mass could not be ascertained because the excised specimen showed only haemorrhage and features of ovarian torsion on histopathological examination. Regression of pubertal development occurred over a three-month period postoperatively.
Pigmenti Associated With Precocious Puberty
An 11-year old girl, born at term following an uneventful pregnancy, had some blisters on both sides of the head and discrete but linear vesiculobullous lesions on the arms and the trunk at birth. Months later, she developed hyperpigmented lesions over the areas of the vesiculobullous lesions. She achieved menarche at the age of 7 years and by 9 years, had fully developed secondary sexual characteristics. Her bone age was advanced and had luteinizing hormone and follicular stimulating hormone in the pubertal range. Our patient has demonstrated a rare clinical association of incontinentia pigmenti with idiopathic precocious puberty. The clinical significance of this association of incontinentia pigmenti with precocious puberty is not known.
Clinical Expression of Precocious Puberty in Girls
Pediatric and Adolescent Gynecology, 2012
Premature development of breast and/or pubic hair in a prepubertal girl used to raise questions and concerns from the families. There is actually a wide range of clinical expressions of precocious puberty in girls and not all presentations are considered to be true precocious puberty. Central precocious puberty occurs in 10-20% of girls, but beside the typical forms other clinical presentations have been identified. In 50-60% of the cases, only one secondary sex characteristic shows premature development and raises the diagnosis of premature thelarche, premature pubarche or isolated metrorrhagia. In 10% of the cases, autonomous ovarian overproduction of estrogens causes peripheral precocious puberty. Lastly, hyperestrogenism may have exogenous causes, such as exposure to environmental chemical pollutants. A decision on therapeutic management is based on clinical, biological and radiologic examinations, and LHRH analogous treatment should be limited to central precocious puberty before the age of 8 years.
A Two Year Old Girl with Precocious Puberty: The Youngest Ever Age of Presentation
Journal of Medical Science And clinical Research, 2015
Introduction: Precocious means developing unusually early .Precocious puberty is onset of puberty before 8 year in girls and 9 year in boys. 1 When it is because of premature activation of hypothalamic pituitary axis, it is called central or complete precocious puberty. If it results from ectopic gonadotropin secretion, it is called peripheral precocious puberty. We hereby present a two year old menstruating girl with precocious puberty as a rare presentation. Case Presentation: A two year old baby girl was brought by her parents to Gynecology outpatient department with complaint of per vaginal bleeding. On examination, her pubic and axillary hair, and breast were developed with Tanner stage 2 and 4 respectively. Her routine blood investigations and hormone profile were normal except increased level of Dehydroepiandrosterone. X-ray of her distal radio-ulnar joint and MRI scan of her brain were normal. On ultrasonography, a mass was visible (5.5×5.4 cm) in left adrenal gland which was confirmed by CT scan (5.2×3.9cm). Conclusion: Hereby, we report an extremely rare case of peripheral precocious puberty with Tanner Stage 4 breast development and pubic hair (Tanner Stage 2) in a menstruating two year old girl due to benign adrenal adenoma.
European Journal of Endocrinology, 2008
Objective: 17-Hydroxylase/17,20-lyase deficiency (17OHD) results from mutations in the CYP17A1 gene, leading to failure to synthesize cortisol, adrenal androgens, and gonadal steroids. Adrenarche is a consequence of the increased production of adrenal androgens. Here, we report a case carrying novel R239Q mutation causing complete functional loss of CYP17A1, and thus absence of adrenal and gonadal sex hormone production. The patient has had unexpected pubic hair development and insufficient breast development with estrogen replacement therapy. Possible mechanisms leading to pubic hair development and breast underdevelopment are discussed. Patient and methods: A 15-year-old female born to consanguineous parents presented with the lack of full breast development and irregular menses after the age of 14 years. She had Tanner III breast development on one side, Tanner I on the other side and Tanner I pubic hair and, no axillary hair development. The serum levels of FSH, LH, and progesterone were high and, estradiol was low. The measurement of basal and ACTH-stimulated steroids was consistent with the diagnosis of 17OHD. Genetic analysis revealed novel homozygous mutation R239Q in CYP17A1 gene. Therapy with hydrocortisone was initiated and followed by the addition of conjugated estrogen. Her breast development did not improve considerably, however, pubic hair development started after estrogen treatment in spite of undetectable serum levels of androgens. Conclusion: This case study suggests that estrogen exerts a permissive effect on pubic hair development in girls, even in the presence of very low-circulating androgens, and impaired breast development might be due to estrogen/progesterone imbalance in breast tissue.