McCune-Albright Syndrome with Male Premature Pubarche of Unusual Origin

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Abstract

Premature pubarche in boys is a rare manifestation of McCune-Albright syndrome (MAS). In all cases published so far, it has always been attributed to an excessive testosterone production in the testicles. For the first time we describe a boy with MAS and evidence of premature pubarche of extragonadal origin. Apart from fibrous dysplasia of the forehead and a growth hormone- and prolactin-producing pituitary adenoma, the boy presented with premature pubarche at the age of 6 years and 11 months. The size of his testicles was only 2 ml at that time and remained thus despite a progression of his pubic hair to Tanner stage IV at the age of 10 years. In the basal blood analysis testosterone was not significantly elevated. However, androstenedione and DHEAS were elevated in the serum, and in repetitive 24-hour urine samples DHEAS metabolites were markedly elevated. We therefore concluded that the patient’s premature pubarche might have originated in an increased production of DHEAS. This increased production might be due to an activating mutation of a hormone receptor in the zona reticularis of his adrenal glands leading to an increase in sulfotransferase activity and excessive DHEAS production.

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Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study.

Serge Lumbroso, Charles Sultan, … (2004)

McCune-Albright syndrome (MAS) is a sporadic disorder characterized by the classic triad of polyostotic fibrous dysplasia, café-au-lait skin pigmentation, and peripheral precocious puberty. It is due to postzygotic activating mutations of arginine 201 in the guanine-nucleotide-binding protein (G protein) alpha-subunit (Gsalpha), leading to a mosaic distribution of cells bearing constitutively active adenylate cyclase. MAS is heterogeneous: beyond the classic triad, a number of atypical or partial presentations have been reported. We present here the results of a systematic search for Gsalpha mutations in patients presenting with at least one of the signs of MAS, using a PCR-based sensitive method. We studied 113 patients (98 girls and 15 boys), 24% presenting the classic triad, 33% with two signs, and 40% with only one classic sign. Overall, the mutation was identified in 43% of the patients. When an affected tissue was available, the mutation was found in more than 90% of the patients, whatever the number of signs. Skin was a noteworthy exception because only three of the 11 skin samples were positive. The mutation was detected in 46% of blood samples in patients presenting the classic triad, whereas this figure fell to 21% and 8% in patients with two and one sign, respectively. Our results highlight the frequency of partial forms of MAS and the usefulness of sensitive techniques to confirm the diagnosis at the molecular level. It should be emphasized that we found the mutation in 33% of the 39 cases of isolated peripheral precocious puberty. This study has further widened the definition of MAS. Affections as clinically different as monostotic fibrous dysplasia, isolated peripheral precocious puberty, neonatal liver cholestasis, and the classic MAS all appear to be components of a wide spectrum of diseases based on the same molecular defect.

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Normative data for adrenal steroidogenesis in a healthy pediatric population: age- and sex-related changes after adrenocorticotropin stimulation.

G Lashansky, P Saenger, Elliot Fishman … (1991)

The normal response to a single 0.25-mg dose of ACTH-(1-24) is not well established in infancy or childhood. We report the adrenal steroidogenic responses of 17-hydroxypregnenolone (17OH Preg), 17-hydroxyprogesterone (17OH Prog), 11-deoxycortisol, cortisol, deoxycorticosterone, dehydroepiandrosterone (DHEA), DHEA sulfate, androstenedione (A'dione), and testosterone in 102 healthy children who were divided into 5 groups: group 1 (less than 1 yr old; n = 22), group 2 (1-5 yr old; n = 22), group 3 (6-12 yr old; n = 15), group 4 (early-midpuberty; n = 21), and group 5 (late puberty; n = 22). Baseline and stimulated levels of 17OH Preg were significantly higher in group 1 infants than in group 2 children (P less than 0.01). Baseline levels of 17OH Prog increased in late puberty (P less than 0.01). Baseline and stimulated levels of DHEA rose in late puberty (group 5 vs. group 3, P less than 0.01). DHEA levels in late pubertal females were higher than those in their male counterparts (P less than 0.01). DHEA sulfate levels did not change after ACTH administration in any age group. Baseline and stimulated levels of A'dione rose significantly before the onset of puberty in female children (group 2 vs. group 3, P less than 0.01). The calculated ratio of 17OH Preg/17OH Prog in group 1 was significantly higher than that in other groups of children (P less than 0.01). The calculated, baseline DHEA/A'dione ratio was higher in group 1 than in older children (P less than 0.01). Stimulated ratios were higher in late pubertal females than in males (P less than 0.01). In both sexes baseline and stimulated ratios of 17OH Prog/deoxycorticosterone increased in puberty, such that late pubertal children had higher levels than prepubertal children (P less than 0.01). These data confirm the need for interpretation ACTH stimulation test data to be based upon age- and sex-specific norms.

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Gas chromatography-mass spectrometry profiling of steroids in times of molecular biology.

F. Hartmann, S Wudy (2004)

This review's aim is to outline the potential of gas chromatography-mass spectrometry profiling of steroids in the diagnosis of endogenous human steroid disorders. Mass spectrometry currently provides the highest specificity in clinical steroid analysis. The non-invasive and non-selective GC-MS urinary steroid profiling technique enables diagnosis of almost any adrenal enzyme defects in steroid biosynthesis. While enzymatic defects can be diagnosed from spot urine samples in most cases, analysis of 24-hr urinary samples permits determination of hormonal excretion rates or enables diagnostic or therapeutic monitoring of steroid related diseases. Profiling plasma steroids by isotope dilution/GC-MS is particularly suitable where only minimal plasma samples are available and/or the highest specificity is required; therefore, GC-MS steroid profiling presents a complementary analytical technique whenever highest specificity is required. Clinical GC-MS profiling of steroids is also highly recommended as a reasonable initial diagnostic approach--especially in unclear situations--avoiding uncritical and expensive attempts at molecular diagnostic testing.

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Author and article information

Journal

Journal ID (publisher-id): HRE

Journal ID (nlm-ta): Horm Res Paediatr

Journal ID (doi): 10.1159/issn.1663-2818

Title: Hormone Research in Paediatrics

Publisher: S. Karger AG

ISSN (Print): 1663-2818

ISSN (Electronic): 1663-2826

Publication date Subscription-year: 2008

Publication date (Print): May 2008

Publication date (Electronic): 06 February 2008

Volume: 69

Issue: 5

Pages: 312-316

Affiliations

^aDivision of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University of Ulm, Ulm, and ^bSteroid Research Unit, Center of Child and Adolescent Medicine, Justus Liebig University of Giessen, Giessen, Germany

Article

Publisher ID: 114864 Other ID: Horm Res 2008;69:312–316

DOI: 10.1159/000114864

PubMed ID: 18259112

SO-VID: 4d76a877-8c55-4b53-b743-d0551ec3ee40

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Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

History

Date received : 13 June 2007

Date accepted : 18 September 2007

Page count

Tables: 3, References: 12, Pages: 5

McCune-Albright Syndrome with Male Premature Pubarche of Unusual Origin

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Karger: Endocrinology

Most cited references 9

Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study.

Normative data for adrenal steroidogenesis in a healthy pediatric population: age- and sex-related changes after adrenocorticotropin stimulation.

Gas chromatography-mass spectrometry profiling of steroids in times of molecular biology.

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