Central precocious puberty complicating congenital adrenal hyperplasia: North Indian experience

Dayal, Devi; Aggarwal, Aditya; Seetharaman, Keerthivasan; Muthuvel, Balasubramaniyan

doi:10.4103/ijem.ijem_254_18

Cited by 11 publications

(10 citation statements)

References 5 publications

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“…The LH : FSH ratio of > 1 is rare in girls under three years of age [5]. Such a ratio may rarely be observed in patients with untreated PPP and is due to chronic androgen excess that may activate the HPO axis and cause CPP [6]. However, the overall very low response of LH and FSH to the GnRH stimulus makes CPP less likely in our patient.…”

Section: Discussionmentioning

confidence: 61%

An intriguing case of precocious puberty due to an ovarian mass in an infant

Dayal

Seetharaman

Prema

et al. 2019

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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.

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Section: Discussionmentioning

confidence: 61%

An intriguing case of precocious puberty due to an ovarian mass in an infant

Dayal

Seetharaman

Prema

et al. 2019

pedm

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“…In the index patients also, the diagnosis was delayed although genital ambiguity had been noticed by parents at birth. The delays in seeking medical advice by parents as well as the lack of a newborn screening program for CAH contribute significantly to the diagnostic delays in developing country setups like ours [3].…”

Section: Discussionmentioning

confidence: 98%

“…Classic CAH caused by the 21-OH deficiency may manifest either as a SW or SV form. The classic SW form usually manifests during the first few weeks of life with adrenal insufficiency whereas patients with SVCAH are usually diagnosed late with either clitoral enlargement or precocious puberty [2,3]. In the index patients also, the diagnosis was delayed although genital ambiguity had been noticed by parents at birth.…”

Section: Discussionmentioning

confidence: 99%

Simple virilising congenital adrenal hyperplasia in monozygotic twins: A rare report and review of previous cases

Muthuvel¹,

Gautam²,

Pal³

et al. 2020

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Congenital adrenal hyperplasia (CAH) occurring in twins is extremely rare. Most of these cases are of classic salt-wasting CAH due to 21-hydroxylase enzyme deficiency. Only two cases of the simple virilising form of CAH have been reported previously, with variable clinical presentations. In this report, we describe a pair of monozygotic twins with classic simple virilising form of CAH, who had a simultaneous onset and similar severity of clinical manifestations. Genetic analysis of the CYP21A2 gene in twin 1 showed the presence of two heterozygous pathogenic sequence variants, c.518T>A and c.955C>T in the CYP21A2 gene, consistent with a diagnosis of CAH due to 21-hydroxylase deficiency. We also present a brief review of previous cases of twins with CAH.

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“…Chronic hyperandrogenemia causes central precocious puberty by affecting the hypothalamus leading to reduced adult height and advanced bone age. 4 By showing the insufficient synthesis of cortisol, aldosterone, or both in conjunction with a buildup of precursor hormone concentrations, CAH is diagnosed. A high serum concentration of 17-hydroxyprogesterone (17-OHP) occurs in 21-hydroxylase deficiency, low serum aldosterone concentrations, hyponatremia, hyperkalemia, and elevated plasma renin activity indicate hypovolemia.…”

Section: Introductionmentioning

confidence: 99%

Experience with Congenital Adrenal Hyperplasia in Tripoli Children's Hospital, Libya

Abulgassem

BenRajab

2022

Journal of Diabetes and Endocrine Practice

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Congenital adrenal hyperplasia (CAH) denotes a group of autosomal recessive disorders. Its clinical spectrum varies from classical CAH (CCAH) to nonclassic CAH. It may be a simple virilizing form or salt-wasting type. The study described the clinical presentation, treatment modalities, and sequelae of CAH, including its effect on patient growth during long-term follow-up. A case series study was conducted on patients with CAH who attended and followed up in the Endocrine Clinic in Tripoli Children's Hospital from January 1, 2000 to December 31, 2018. The presentation and the last visit captured demographic and clinical features at the time of diagnosis, types of CAH (classical vs. nonclassical), investigations, treatment details, and height. All patients underwent biochemical testing and hormonal assay, including adrenocorticotropin hormone (ACTH), 17-hydroxyprogesterone (17-OHP), and plasma renin activity (PRA) levels before and after treatment. Fifty-eight patients were included; 38 (65.5.2%) were female, age at presentation in 94.8% ranged between 1 day and 10 years, with a mean age of 2.3 ± 1.1 years. Ambiguous genitalia was the presenting feature in 55.2 and 84% of total and female patients, respectively. Salt wasting was present in 37.9%. Of 32 female patients with ambiguous genitalia, only 11 (34.4%) out of them and 19% of all patients had a surgical correction. The mean and standard deviation of height at diagnosis was 78.327 + 31.070, and the last visit after treatment was 108.345 + 31.781. The relation between the date of birth and height throughout follow-up for those at last visit with age ranges from 13 to 18 years old, their mean and standard deviation of height was 135.650 + 29.286, and for patients who were less than13 years at last visit, the mean and standard deviation of height was 101.079 + 32.121; p-value = 0.003. The Z-scores were calculated and showed that about eight patients were positively above the average mean of the population. Biochemical disturbances were improved after treatment, including sodium, potassium, and glucose in CCAH type; p-value < 0.001. Hormonal findings included levels of ACTH, 17-OHP, and PRA; all levels were reduced with treatment; p-value < 0.001. In this single-center series, most of our patients with biochemical and hormonal abnormalities were normalized with hormonal replacement and limited surgical correction of females with ambiguous genitalia.

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Central precocious puberty complicating congenital adrenal hyperplasia: North Indian experience

Cited by 11 publications

References 5 publications

An intriguing case of precocious puberty due to an ovarian mass in an infant

An intriguing case of precocious puberty due to an ovarian mass in an infant

Simple virilising congenital adrenal hyperplasia in monozygotic twins: A rare report and review of previous cases

Experience with Congenital Adrenal Hyperplasia in Tripoli Children's Hospital, Libya

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