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J Clin Endocrinol Metab. 2015 Jun;100(6):2303-13. doi: 10.1210/jc.2014-4124. Epub 2015 Mar 30.

Clinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey.

Author information

1
University Paris-Sud (C.B., L.E., J.Y.), Assistance Publique Hôpitaux de Paris, Paris, France; Department of Pediatric Endocrinology (C.B., L.E.), Bicêtre Hospital, F-94275 Le Kremlin Bicêtre, France; French Reference Center of Rare Disorders of Sexual Development, (C.B., L.E., A.B.d.l.P., Y.M., V.T.-G., J.Y.), F-94275 Le Kremlin Bicetre, France; Department of Endocrinology (P.R.-P.), Tours Hospital, F-37380 Tours, France; Department of Endocrinology (A.B.d.l.P.), Lyon University Hospital, F-69000 Lyon, France; Department of Endocrinology (F.I.), Angers Hospital, Angers, France; Department of Endocrinology (V.K.), Brest University Hospital, F-29600 Brest, France; Department of Endocrinology (V.P.-V.), Brabois Hospital, F-54200 Nancy, France; Department of Endocrinology (D.Dr.), Nantes University Hospital, F-44000 Nantes, France; Department of Reproductive Endocrinology (S.C.-M.), St-Antoine Hospital, F-75012 Paris, France; Department of Endocrinology (F.G., D.P.), Rennes Hospital, F-35203 Rennes, France; Department of Endocrinology (T.B.), La Timone Hospital, F-13385 Marseilles, France; Department of Endocrinology (Y.R.), Hospital Nacre, Caen, France; Department of Endocrinology (F.S.), Jean Minjoz Hospital, Besançon, France; Department of Endocrinology (X.P.), Poitiers Hospital, Poitiers, France; Department of Endocrinology (G.C.), Strasbourg Hospital, F-67000 Strasbourg, France; Department of Endocrinology (B.D.), Reims Hospital, F-51100 Reims, France; Department of Endocrinology (I.T.), Clermond-Ferrand Hospital, F-63100 Clermond-Ferrand, France; Department of Endocrinology (M.-L.R.-S.), Ambroise Paré Hospital, F-92104 Boulogne-Billancourt, France; Department of Endocrinology (PE), Orléans Hospital, Orléans, France; Department of Endocrinology (J.B.), Cochin Hospital, Paris, France; Department of Endocrinology (J.-M.K.), Rouen Teaching Hospital, F-76031 Rouen, France; Department of Endocrinology, Toulouse Teaching Hospital, F-31059; Department of Pediatric

Abstract

CONTEXT:

Outcomes of congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency (21OHD) have been widely studied in children and women, but less so in men.

OBJECTIVE:

The objective was to analyze data from a network of metropolitan French teaching hospitals on the clinical outcome of classic 21OHD in a large sample of congenital adrenal hyperplasia/21OHD-genotyped adult men, and particularly the impact of 21OHD on the gonadotrope axis, testicular function, and fertility.

METHODS:

From April 2011 to June 2014, tertiary endocrinology departments provided data for 219 men with 21OHD (ages, 18-70 y; 73.6% salt wasters, 26.4% simple virilizers). Testicular sonography was performed in 164 men, and sperm analysis was performed in 71 men.

RESULTS:

Mean final height was 7.8 cm lower than in a reference population. Obesity was more common, and mean blood pressure was lower than in the reference population. None of the patients were diabetic, and lipid status was generally normal. Blood electrolyte status was normal in the vast majority of men, despite markedly elevated ACTH and renin levels. Serum progesterone, 17-hydroxyprogesterone, and androstenedione levels were above normal in the vast majority of cases. Hormonal profiling variously showed a normal gonadotrope-testicular axis, gonadotropin deficiency, or primary testicular insufficiency. Testicular sonography revealed testicular adrenal rest tumors (TARTs) in 34% of 164 men. Serum inhibin B and FSH levels were significantly lower and higher, respectively, in patients with TARTs. Severe oligospermia or azoospermia was found in 42% of patients and was significantly more prevalent in men with TARTs (70%) than in men with normal testes (3.6%; P < .0001). Among men living with female partners, TARTs were significantly more prevalent in those who had not fathered children.

CONCLUSION:

We report the spectrum of testicular/gonadotrope axis impairment in the largest cohort of 21OHD men studied to date. Our results suggest that French men with 21OHD managed in specialized centers frequently have impaired exocrine testicular function but that its reproductive implications are often overlooked.

PMID:
25822101
DOI:
10.1210/jc.2014-4124
[Indexed for MEDLINE]

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