REPLACEMENT ORAL ETHINYLOESTRADIOL THERAPY FOR GONADAL DYSGENESIS: GROWTH AND ADRENAL ANDROGEN STUDIES

ABSTRACT We have studied growth and adrenal dehydroepiandrosterone (DHA) responses to iv synthetic adrenocorticotrophic hormone (ACTH, Cortrosyn) in 6 girls with gonadal dysgenesis before and during treatment with lowdose ethinyloestradiol (EOe2). In all patients there was a statisfactory induction of secondary sexual characteristics including increase in breasts and pubic hair and onset of withdrawal bleeding within 6 months of therapy. Height velocity increased from 2.8 ± 0.9 cm/year pre-treatment to 5.3 ± 1.5 cm/year (P < 0.02) in the first year. There was deceleration to 1.9 ± 1.1 cm/year in the second year. There was no disproportionate advancement in bone age and thus, presumably, no loss of ultimate height. We could demonstrate no change in basal or ACTH-stimulated levels of DHA, a specific adrenal androgen, to account for the increased pubic hair and growth in these patients.

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Testosterone Therapy for Pubertal delay

Pediatrics in Review ◽

10.1542/pir.13.1.5 ◽

1992 ◽

Vol 13 (1) ◽

pp. 5-39

Keyword(s):

Anabolic Steroids ◽

Pubic Hair ◽

Height Velocity ◽

Delayed Puberty ◽

Secondary Sexual Characteristics ◽

Self Image ◽

Pubertal Delay ◽

Constitutional Delay ◽

Sexual Characteristics ◽

Age Appropriate

Despite considerable variation in the age at which puberty normally begins, a male adolescent who has demonstrated neither testicular nor pubic hair growth by 14 years of age is considered to have delayed puberty. Although such delay may indicate hypopituitarism or isolated gonadotropin deficiency, most commonly it represents a normal variation, termed "constitutional delay in growth and maturation." Such patients eventually will enter puberty and achieve normal sexual maturation and adult height. However, during adolescence, such delays may be accompanied by impaired self-image and social isolation. Under these conditions, many pediatric endocrinologists advocate short-term use of anabolic steroids. Such therapy is aimed at accelerating height velocity during the ensuing year, accompanied by the development of age-appropriate secondary sexual characteristics.

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Adolescent Girls with Pure Gonadal Dysgenesis: A Rare Disease

Journal of Bangladesh College of Physicians and Surgeons ◽

10.3329/jbcps.v36i4.38187 ◽

2018 ◽

Vol 36 (4) ◽

pp. 170-174

Author(s):

Joysree Saha ◽

Kohinoor Begum ◽

Kamil Ara Khanom ◽

Indrajit Prasad ◽

Sumaya Akter

Keyword(s):

Gonadal Dysgenesis ◽

Ovarian Function ◽

Sensorineural Deafness ◽

Pubic Hair ◽

Primary Amenorrhoea ◽

Secondary Sexual Characteristics ◽

Sexual Characteristics ◽

Patient Will ◽

History Of ◽

Secondary Sexual

Gonadal dysgenesis is a rare cause of primary amenorrhoea ,which is a relatively common problem among teenage girls.Primary amenorrhoea occurs in patient with gonadal dysgenesis because of absence or limited ovarian function due to inappropriate development.Streak gonads are unable to produce estrogens and/or androgens,resulting in minimal to no development of secondary sexual characteristics.Adrenal androgens may induce production of pubic hair,but patient will have minimal breast development.These patients may have a family history of infertility, short stature,sensorineural deafness,ataxia,mild mental retardation or gonadoblastoma. Here two cases of primary amenorrhoea due to pure gonadal dysgenesis are presented. 1 st one was a 18yr old girl whose mother consulted with a gynaecologist at the age of 16yr because of her worries about absence of menarche of her daughter and secondone was a 14yr old girl whose mother consulted with a gynaecologist at the age of 16yr because of absence of secondary sexual characteristics as well as menarche of her daughter. In both cases, blood test showed very high levels of follicle stimulating hormone (FSH) & luteinizing hormone (LH), low levels of oestradiol& very low level of AMH. USG findings of both cases showed a bit hypoplastic uterus and volume of ovaries were smaller than normal. A diagnostic laparoscopy with biopsy of both gonads of one case was performed.Another case did not give consent for laparoscopy.Hormonal replacement therapy was applied on them for establishment of normal menstruation and menstruation was established in both cases. An early diagnosis is extremely important to prevent long term consequences of Gonadal dysgenesis.J Bangladesh Coll Phys Surg 2018; 36(4): 170-174

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Variantes normales del desarrollo puberal y pubertad precoz: Análisis de dos casos clínicos

Revista Facultad de Ciencias de la Salud UDES ◽

10.20320/rfcsudes.v3i1.110 ◽

2016 ◽

Vol 3 (1) ◽

pp. 77

Author(s):

Lucía Rivero ◽

Carlos Zunino ◽

María Noel Cuadro ◽

Gustavo Giachetto

Keyword(s):

Growth Rate ◽

Precocious Puberty ◽

Normal Growth ◽

Bone Age ◽

Pubic Hair ◽

Breast Size ◽

Secondary Sexual Characteristics ◽

Sexual Characteristics ◽

Cranial Mri

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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Precocious Puberty: Diagnosis, Evaluation, and Management

Pediatrics in Review ◽

10.1542/pir.14.9.336 ◽

1993 ◽

Vol 14 (9) ◽

pp. 336-367

Keyword(s):

The United States ◽

Gonadotropin Releasing Hormone ◽

Growth Spurt ◽

Transitional Stage ◽

Pubertal Growth Spurt ◽

Adrenal Androgen ◽

Secondary Sexual Characteristics ◽

Pubertal Growth ◽

Sexual Characteristics ◽

Physical Changes

Puberty is a transitional stage associated with many changes, both physical and emotional. The endocrinologic changes, consisting of two processes, gonadarche and adrenarche, result in the development of secondary sexual characteristics and the pubertal growth spurt. Gonadarche, the maturation of the gonads, is initiated by the episodic pulsatile secretion of gonadotropin-releasing hormone (GnRH) from the hypothalamus. Adrenarche refers to the increase in adrenal androgen secretion (the mechanism responsible for this is unknown). Both of these processes cause an increase in sex steroid secretion, which results in the physical changes of puberty. In the United States, normal puberty occurs between 8 to 13 years in girls and 9 to 14 years in boys.

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Complete gonadal dysgenesis analysis in the population of Latvia: malignant outcomes and a review of literature

Medicine and Pharmacy Reports ◽

10.15386/mpr-2064 ◽

2021 ◽

Author(s):

Alise Jakovleva ◽

Zanna Kovalova

Keyword(s):

Median Time ◽

Gonadal Dysgenesis ◽

Additional Patient ◽

Delayed Puberty ◽

Primary Amenorrhea ◽

Secondary Sexual Characteristics ◽

Sexual Characteristics ◽

Swyer Syndrome ◽

Complete Gonadal Dysgenesis ◽

Secondary Sexual

Background and aim. Complete gonadal dysgenesis or Swyer syndrome is a rare genetic disorder characterized by 46,XY karyotype and female phenotype with undeveloped streak gonads and high malignancy risk. The condition usually manifests in teenage and young adults with delayed puberty and primary amenorrhea. The purpose of this study was to investigate the incidence and potential malignant outcomes of complete gonadal dysgenesis in Latvia. Methods. 37 patients were included in a retrospective study from 1996 to 2016. In fifteen cases, additional patient information was available. Information from medical records was collected on age at the time of diagnosis: anamnesis data, laboratory results, histology of gonads, and treatment. Results. Complete gonadal dysgenesis with karyotype 46,XY was proven in 36 (97.3%) cases and one (2.7%) case with karyotype 47,XY,+21. The average age of patients at the time of diagnosis was 15.4 ± 8.0 years. The study included 15 cases: eight patients (53.3%) were investigated for primary amenorrhea, and incomplete development of secondary sexual characteristics, 5 patients (33.3%) with abdominal pain and lower abdominal mass, 2 patients (13.3%) were diagnosed at birth. Gonadectomy was performed in 12 cases (80%). The median time between diagnosis and gonadectomy was 0.4 ± 4.3 years. The histopathology results from the gonadal biopsy showed malignancy in 7 cases (58.3%). The most commonly diagnosed tumors were dysgerminoma and gonadoblastoma. Conclusion. Early diagnosis of Swyer syndrome is necessary in view of the risk of malignancy that can develop at a young age. In several cases, the diagnosis of the syndrome was made only after the malignant process development. The study showed the median time between diagnosis and gonadectomy was suboptimal. Therefore, women with amenorrhea and lack of secondary sexual characteristics require careful investigation.

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Karyotype Abnormalities in the X Chromosome Predict Response to the Growth Hormone Therapy in Turner Syndrome

Journal of Clinical Medicine ◽

10.3390/jcm10215076 ◽

2021 ◽

Vol 10 (21) ◽

pp. 5076

Author(s):

Jakub Kasprzyk ◽

Marcin Włodarczyk ◽

Aleksandra Sobolewska-Włodarczyk ◽

Katarzyna Wieczorek-Szukała ◽

Renata Stawerska ◽

...

Keyword(s):

Turner Syndrome ◽

X Chromosome ◽

Growth Hormone Therapy ◽

Marker Chromosome ◽

Height Velocity ◽

First Year ◽

Rhgh Therapy ◽

Different Types ◽

Second Year

Short stature is characteristic for Turner syndrome (TS) patients, and particular karyotype abnormalities of the X chromosome may be associated with different responsiveness to recombinant human GH (rhGH) therapy. The aim of the study was to analyze the effect of different types of TS karyotype abnormalities on the response to rhGH therapy. A total of 57 prepubertal patients with TS treated with rhGH with a 3 year follow-up were enrolled in the study and categorized according to their karyotype as X monosomy (n = 35), isochromosome (n = 11), marker chromosome (n = 5), or X-mosaicism (n = 6). Height and height velocity (HV) were evaluated annually. In the first year, all groups responded well to the therapy. In the second year, HV deteriorated significantly in X-monosomy and isochromosome in comparison to the remaining two groups (p = 0.0007). After 3 years of therapy, all patients improved the score in comparison to their target height, but better outcomes were achieved in patients with marker chromosome and X-mosaicism (p = 0.0072). X-monosomy or isochromosome determined a poorer response during the second and third year of rhGH therapy. The results of the study indicate that the effects of rhGH therapy in patients with TS may depend on the type of TS karyotype causing the syndrome.

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Letters to the Editor

PEDIATRICS ◽

10.1542/peds.52.1.150a ◽

1973 ◽

Vol 52 (1) ◽

pp. 150-150

Author(s):

Gertrude Costin ◽

Maurice D. Kogut

Keyword(s):

Thyroid Hormone ◽

Clinical Data ◽

Pubic Hair ◽

Breast Development ◽

Letters To The Editor ◽

Female Patients ◽

Secondary Sexual Characteristics ◽

Adequate Therapy ◽

Sexual Characteristics ◽

Axillary Hair

Drs. Costin and Kogut comment as follows: We were pleased to read Dr. Comas' letter in which he describes a 12-4/12-year-old girl whose clinical data suggest that she may be an example of the syndrome that we reported. The evidence for this was the occurrence of menstruation, pubic hair, and breast development when the patient was hypothyroid and disappearance of menstruation following treatment with thyroid hormone. It is not clear why Dr. Comas' patient had an increase in pubic hair and appearance of axillary hair following treatment at a time when her menstrual periods ceased; in all the reported female patients regression of the secondary sexual characteristics was noted following adequate therapy.

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Glucocorticoids and adrenal androgens in children with end stage renal disease

Acta Endocrinologica ◽

10.1530/acta.0.1240245 ◽

1991 ◽

Vol 124 (3) ◽

pp. 245-250 ◽

Cited By ~ 8

Author(s):

Jorge R. Ferraris ◽

José A. Ramírez ◽

Victoria Goldberg ◽

Marco A. Rivarola

Keyword(s):

Inverse Correlation ◽

Serum Cortisol ◽

Bone Age ◽

Pubic Hair ◽

High Serum ◽

Chronic Hemodialysis ◽

Dehydroepiandrosterone Sulphate ◽

Acth Stimulation ◽

Adrenal Androgen ◽

Pituitary Dysfunction

Abstract. We studied the effects of chronic renal failure on the pituitary-cortisol axis and adrenal androgen function in 26 patients (16 male and 10 female), aged 6.5 to 22.5 years (mean 14.5). Ten patients were prepubertal, 8 pubertal, and 8 post-pubertal. All of them were on chronic hemodialysis. Pubic hair development was delayed in 56% of the patients. Serum cortisol was increased in 15 out of the 26 patients. Serum Δ4-androstenedione was high in 11 out of 15 patients in Tanner's stage I or II and in 1 out of 11 patients in Tanner's stage III, IV or V (p<0.01). Serum cortisol was elevated in 10 out of 12 patients with high serum Δ4-androstenedione and in only 5 out of 14 with normal Δ4-androstenedione (p<0.02). Serum dehydroepiandrosterone sulphate was normal in 22 patients and elevated in 4 males. There was a significant inverse correlation between bone age and serum cortisol (r:-0.59; p<0.005) and a significant positive correlation between bone age and serum dehydroepiandrosterone sulphate (r: 0.45 p<0.01). Serum ACTH was normal. A reduction by 50% in cortisol and 78% in dehydroepiandrosterone sulphate was found after dexamethasone suppression, but Δ4-androstenedione did not suppress after dexamethasone. After ACTH stimulation test cortisol increased by 50% and Δ4-androstenedione by 80%. Conclusions: The increased levels of cortisol and Δ4-androstenedione with partial resistance to dexamethasone suggest that these patients have a hypothalamic-pituitary dysfunction similar to that found in Cushing's disease or in chronic stress. The difference in the responses of Δ4-androstenedione and dehydroepiandrosterone sulphate observed is consistent with the existence of different mechanisms of control for these two steroids.

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PLASMA TESTOSTERONE IN MALE PUBERTY

Acta Endocrinologica ◽

10.1530/acta.0.0750181 ◽

1974 ◽

Vol 75 (1) ◽

pp. 181-194 ◽

Cited By ~ 51

Author(s):

D. Knorr ◽

F. Bidlingmaier ◽

O. Butenandt ◽

H. Fendel ◽

R. Ehrt-Wehle

Keyword(s):

Bone Age ◽

Pubic Hair ◽

Cross Sectional Study ◽

Growth Spurt ◽

Plasma Testosterone ◽

Gas Liquid Chromatography ◽

Cross Sectional ◽

Sexual Characteristics ◽

Testicular Size ◽

Axillary Hair

ABSTRACT Plasma testosterone was investigated by gas-liquid chromatography with an electron capture detector in a cross-sectional study in childhood and during puberty in 214 boys. The testosterone values were correlated with sexual characteristics such as axillary hair, pubic hair, testicular size and bone age. In 22 individuals during puberty a longitudinal study was started, indicating a very steep increase of plasma testosterone between 40 and 240 ng/100 ml. This stage is mostly passed through very rapidly within 10 months. Plasma testosterone, growth velocity and weight gain were correlated in two boys during puberty. The peak of growth spurt occurs between 50 and 170 ng of plasma testosterone.

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Central Precocious Puberty in Boys and Girls: Similarities and Differences

Sexes ◽

10.3390/sexes2010010 ◽

2021 ◽

Vol 2 (1) ◽

pp. 119-131

Author(s):

Cristina Mucaria ◽

Nina Tyutyusheva ◽

Giampiero I. Baroncelli ◽

Diego Peroni ◽

Silvano Bertelloni

Keyword(s):

Precocious Puberty ◽

Central Precocious Puberty ◽

Bone Age ◽

Gnrh Analog ◽

Secondary Sexual Characteristics ◽

Sexual Characteristics ◽

The Central Nervous System

Central precocious puberty (CPP) is due to the premature activation of the hypothalamic–pituitary–gonadal axis, which is responsible for the appearance of secondary sexual characteristics. It occurs before the age of 8 and 9 in girls and boys, respectively. CPP shows higher incidence in females than in males. Causes of CPP are similar in both sexes, but the idiopathic form is more frequent in girls, while organic forms are more frequent in males. Recent studies demonstrated a role of some genetic variants in the pathogenesis of CPP. The diagnostic evaluation based on accurate physical examination, assessment of the pituitary–gonadal axis, pelvic sonography in girls, and determination of bone age. Magnetic resonance of the central nervous system should be done in all boys and selected girls. Since the 1980s, pharmacologic treatment involves the use of gonadotropin-releasing hormone (GnRH) analogs. These drugs are characterized by few side effects and long-term safety. Many data are available on the outcome of GnRH analog treated female patients, while poor data are reported in boys. Adult height is improved in both sexes.

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